Canonical Allele Identifier: PA645468302
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 421021
ClinVar RCV Id: RCV000485524 RCV000675092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ser177Cys
CA16620003
NM_000520.6:c.530C>G