Allele Registry

Canonical Allele Identifier: PA2825207339

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001890551

ClinVar Variation:

1382790

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ile436Leu	CA393060456 NM_000520.6:c.1306A>C CA393060459 NM_000520.6:c.1306A>T