Allele Registry

Canonical Allele Identifier: PA2828764465

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000498239

RCV001370621

ClinVar Variation:

432728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Arg1943Ser	CA50397074 NM_001378454.1:c.5827C>A