Canonical Allele Identifier: PA1139688222
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3898
ClinVar RCV Id: RCV000004104 RCV000168285 RCV000434025 RCV001810397 RCV002408450 RCV003924800
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly280Ser
CA116500
NM_001318825.2:c.838G>A