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: PA2827159377

Gene: HK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2506469

ClinVar RCV Id: RCV003236637

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309295.1:p.Thr429Lys	CA376909717 NM_001322366.1:c.1286C>A