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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:
CA340943
Gene: MT-ND1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9724
ClinVar RCV Id:
RCV000010373
RCV000709875
RCV000853749
dbSNP Id:
rs1599988
COSMIC:
COSM1138370
COSM1138371
MyVariant Identifiers:
chrMT:g.4216T>C (hg38)
PubMed:
PMID:1732158
PMID:1900003
PMID:7635294
PMID:20301353
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.4216T>C , J01415.2:m.4216T>C
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361390.2:c.910T>C
ENSP00000354687.2:p.Tyr304His
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