Allele Registry

Canonical Allele Identifier: PA658667359

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000519349

RCV000765700

RCV003159669

RCV003387868

ClinVar Variation:

449959

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Gly4014Ser	CA1715407 NM_015120.4:c.12040G>A