Canonical Allele Identifier: PA645468378
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_000511.2:p.Thr263Ile
CA16044205
NM_000520.6:c.788C>T