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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:
CA337096951
Gene: MT-ND2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441150
ClinVar RCV Id:
RCV000509491
RCV002221548
dbSNP Id:
rs3021086
MyVariant Identifiers:
chrMT:g.4769A>G (hg38)
ERepo:
CA337096951/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4769A>G , J01415.2:m.4769A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361453.3:c.300A>G
ENSP00000355046.4:p.Ile100Met
Search 100 bp 5'
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