Canonical Allele Identifier: PA915958573
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 3884
ClinVar RCV Id: RCV000004088 RCV001238377
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000512.2:p.Pro504Ser
CA116493
NM_000521.4:c.1510C>T