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: PA356046

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000224192

RCV000444233

RCV000445400

RCV001082528

RCV002453744

ClinVar Variation:

220880

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Thr383Ala	CA350101 NM_015120.4:c.1147A>G