Allele Registry

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.

Canonical Allele Identifier: CA913171988

Gene: MT-CYB HGNC NCBI

Linked Data

ClinVar Variation Id: 693756

ClinVar RCV Id: RCV000855146

dbSNP Id: rs1603224855

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.14751C>T , J01415.2:m.14751C>T	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361789.2:c.5C>T	ENSP00000354554.2:p.Thr2Ile

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