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: CA2740098095

Gene: MT-ND1 HGNC NCBI

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3530_3531insACACT , J01415.2:m.3530_3531insACACT	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361390.2:c.224_225insACACT	ENSP00000354687.2:p.Thr76HisfsTer2

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