Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA2828762672

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000224192

RCV000444233

RCV000445400

RCV001082528

RCV002453744

ClinVar Variation:

220880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Thr382Ala	CA350101 NM_001378454.1:c.1144A>G