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: CA915952196

Gene: MT-ND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 692329

ClinVar RCV Id: RCV000853628

dbSNP Id: rs1603218887

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.3308delinsAC , J01415.2:m.3308delinsAC	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361390.2:c.2delinsAC	ENSP00000354687.2:p.Ile1AsnfsTer?

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