Canonical Allele Identifier: PA099539
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_000511.2:p.Gly269Ser
CA116500
NM_000520.6:c.805G>A