Allele Registry

Canonical Allele Identifier: PA2828762465

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000234342

RCV000445446

RCV001762541

RCV001820750

RCV002356303

ClinVar Variation:

241006

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Glu204Ala	CA1712898 NM_001378454.1:c.611A>C