Canonical Allele Identifier: PA1139688669
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3899
ClinVar RCV Id: RCV000004105 RCV000210735 RCV000338961 RCV000520531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg510His
CA116501
NM_001318825.2:c.1529G>A