Canonical Allele Identifier: PA351480
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 218337
ClinVar RCV Id: RCV000202576
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg393Pro
CA277861
NM_000520.6:c.1178G>C