Canonical Allele Identifier: PA658804134
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 496858
ClinVar Variation Id: 619221
ClinVar RCV Id: RCV000758203

Amino-acid Alleles

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