Canonical Allele Identifier: PA645468426
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375360
ClinVar RCV Id: RCV000416466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gln374Pro
CA16044201
NM_000520.6:c.1121A>C