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: CA2573104850

Gene: MT-CO1 HGNC NCBI

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.7390_7391del , J01415.2:m.7390_7391del	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361624.2:c.1487_1488del	ENSP00000354499.2:p.Tyr496TrpfsTer18

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