Canonical Allele Identifier: PA2825207201
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2193443
ClinVar RCV Id: RCV002623961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Pro385Leu
CA393061455
NM_000520.6:c.1154C>T