Canonical Allele Identifier: PA2580202913
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168883
ClinVar RCV Id: RCV003082791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg435Cys
CA393060692
NM_001318825.2:c.1303C>T