Allele Registry

Canonical Allele Identifier: PA915958517

Gene: HEXB HGNC NCBI

ClinVar RCV:

RCV000153357

RCV000987526

ClinVar Variation:

167173

HGVS (amino-acid)	Matching Registered Transcripts
NP_000512.2:p.Leu62Ser	CA180111 NM_000521.4:c.185T>C