Canonical Allele Identifier: PA2580202921
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1723068
ClinVar RCV Id: RCV002306175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Trp442Arg
CA393060560
NM_001318825.2:c.1324T>A
CA393060565
NM_001318825.2:c.1324T>C