Allele Registry

Canonical Allele Identifier: PA2828762920

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000180334

RCV000445510

RCV000825702

RCV001086118

RCV002408782

ClinVar Variation:

198876

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Gly613Asp	CA247738 NM_001378454.1:c.1838G>A