Allele Registry

Canonical Allele Identifier: PA2828762362

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000498257

RCV001319114

RCV003323572

ClinVar Variation:

432725

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Val116Ile	CA50351990 NM_001378454.1:c.346G>A