Canonical Allele Identifier: PA2573070273
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1328994
ClinVar RCV Id: RCV001797885 RCV002034661
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Thr314Pro
CA393062423
NM_001318825.2:c.940A>C