Canonical Allele Identifier: PA2741861435
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_001305754.1:p.Gly283Arg
CA393062725
NM_001318825.2:c.847G>C
CA393062727
NM_001318825.2:c.847G>A