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: CA913190827

Gene: MT-ATP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 590899

ClinVar RCV Id: RCV000771000

dbSNP Id: rs1569484234

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.8752_8753insAAA , J01415.2:m.8752_8753insAAA	GRCh38

Transcript Alleles

HGVS	Amino-acid change
ENST00000361899.2:c.226_227insAAA	ENSP00000354632.2:p.Leu75_Ile76insLys

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