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: PA916022668

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 651332

ClinVar RCV Id: RCV000806667

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Leu61Phe	CA393070269 NM_001318825.2:c.181C>T