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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:
CA414772609
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
692343
ClinVar RCV Id:
RCV000853643
RCV001249404
RCV001796800
dbSNP Id:
rs1556422714
MyVariant Identifiers:
chrMT:g.3357G>C (hg38)
ERepo:
CA414772609/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.3357G>C , J01415.2:m.3357G>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.51G>C
ENSP00000354687.2:p.Met17Ile
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