Allele Registry

Canonical Allele Identifier: PA645495807

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000498239

RCV001370621

ClinVar Variation:

432728

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Arg1944Ser	CA50397074 NM_015120.4:c.5830C>A