Canonical Allele Identifier: PA916022765
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 93190
ClinVar RCV Id: RCV000079050 RCV000377261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Asn477Ser
CA221065
NM_001318825.2:c.1430A>G