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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA120627
Gene: MT-ND6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9694
ClinVar RCV Id:
RCV000010333
RCV000010334
RCV000144020
RCV002247307
RCV003162239
dbSNP Id:
rs199476109
MyVariant Identifiers:
chrMT:g.14487T>C (hg38)
PubMed:
PMID:12205655
PMID:14520668
PMID:14595656
PMID:14684687
PMID:15576045
PMID:20301352
ERepo:
CA120627/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.14487T>C , J01415.2:m.14487T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361681.2:c.187A>G
ENSP00000354665.2:p.Met63Val
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