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: PA2826065348

Gene: PHKA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1714810

ClinVar RCV Id: RCV002299167

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165907.1:p.Gly222Cys	CA413594519 NM_001172436.2:c.664G>T