Canonical Allele Identifier: PA916022719
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 801195
ClinVar RCV Id: RCV000985759 RCV002549653
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Ala257Ser
CA272612475
NM_001318825.2:c.769G>T