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: CA2740098132

Gene: MT-ATP8 HGNC NCBI

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8495dup , J01415.2:m.8495dup	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361851.1:c.130dup	ENSP00000355265.1:p.Ile44AsnfsTer5

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