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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:
CA16040648
Gene: MT-CO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370048
ClinVar RCV Id:
RCV000408931
dbSNP Id:
rs1057516060
MyVariant Identifiers:
chrMT:g.7373A>G (hg38)
PubMed:
PMID:28027978
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7373A>G , J01415.2:m.7373A>G
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000361624.2:c.1470A>G
ENSP00000354499.2:p.Ile490Met
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