Allele Registry

Canonical Allele Identifier: PA645495810

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000445492

RCV000665779

RCV002356627

ClinVar Variation:

393374

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Lys1998Arg	CA1713977 NM_015120.4:c.5993A>G