Canonical Allele Identifier: PA2573199264
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1435180
ClinVar RCV Id: RCV001972139
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Phe44Leu
CA393070458
NM_001318825.2:c.132T>G
CA393070460
NM_001318825.2:c.132T>A
CA393070469
NM_001318825.2:c.130T>C