Allele Registry

Canonical Allele Identifier: PA2828764537

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000445492

RCV000665779

RCV002356627

ClinVar Variation:

393374

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Lys1997Arg	CA1713977 NM_001378454.1:c.5990A>G