Canonical Allele Identifier: PA645468208
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 288069
ClinVar RCV Id: RCV000261357 RCV000670556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ala13Val
CA7645126
NM_000520.6:c.38C>T