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: PA916026595

Gene: HK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372693

ClinVar RCV Id: RCV000413860 RCV000763213 RCV000850129 RCV001266327

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309294.1:p.Thr492Met	CA16042708 NM_001322365.2:c.1475C>T