Canonical Allele Identifier: PA1139688201
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3924
ClinVar RCV Id: RCV000004130 RCV000801596 RCV001810829
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Asp269His
CA116509
NM_001318825.2:c.805G>C