Canonical Allele Identifier: PA1139688184
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 126510
ClinVar RCV Id: RCV000190592 RCV000375852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg260Trp
CA276005
NM_001318825.2:c.778C>T