Canonical Allele Identifier: PA2825206329
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2169084
ClinVar RCV Id: RCV003093068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Asp34Asn
CA393070553
NM_000520.6:c.100G>A