Canonical Allele Identifier: PA658827362
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 554858
ClinVar RCV Id: RCV000670561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gln45Pro
CA7645104
NM_000520.6:c.134A>C