Canonical Allele Identifier: PA1139688260
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3921
ClinVar RCV Id: RCV000004127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly332del
CA212811
NM_001318825.2:c.995_997del