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: CA2740098361

Gene: MT-ND5 HGNC NCBI

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.13716_13720del , J01415.2:m.13716_13720del	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361567.2:c.1380_1384del	ENSP00000354813.2:p.Ser461IlefsTer8

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