Allele Registry

Canonical Allele Identifier: PA247734

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000180331

RCV000445450

RCV000724486

RCV001080812

RCV002390443

ClinVar Variation:

198873

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Ile486Val	CA247732 NM_015120.4:c.1456A>G