Canonical Allele Identifier: PA2825206907
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2736240
ClinVar RCV Id: RCV003502017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly272Arg
CA393062725
NM_000520.6:c.814G>C
CA393062727
NM_000520.6:c.814G>A