Canonical Allele Identifier: PA2573199312
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1349151
ClinVar RCV Id: RCV002046801
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Pro430Arg
CA7644746
NM_001318825.2:c.1289C>G