Allele Registry

Canonical Allele Identifier: PA658804134

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000596803

RCV000758203

RCV003502538

ClinVar Variation:

496858

619221

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Met1Leu