Canonical Allele Identifier: PA2825207197
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1414055
ClinVar RCV Id: RCV001930361
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Lys382Thr
CA272610823
NM_000520.6:c.1145A>C