Canonical Allele Identifier: PA916022725
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375356
ClinVar RCV Id: RCV000416422 RCV003323529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Thr274Ile
CA16044205
NM_001318825.2:c.821C>T