Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA2740098093

Gene: MT-ND1 HGNC NCBI

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3309dup , J01415.2:m.3309dup	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361390.2:c.3dup	ENSP00000354687.2:p.Pro2ThrfsTer?

Search 100 bp 5'

Search 100 bp 3'