Canonical Allele Identifier: PA2580202937
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2030107
ClinVar RCV Id: RCV002881157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Pro457Leu
CA272609886
NM_001318825.2:c.1370C>T