Canonical Allele Identifier: PA645468470
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375364
ClinVar RCV Id: RCV000416475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly478Arg
CA16044197
NM_000520.6:c.1432G>A
CA393058884
NM_000520.6:c.1432G>C