Allele Registry

Canonical Allele Identifier: PA645495792

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000497636

RCV001351232

RCV003323573

ClinVar Variation:

432727

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Val1742Leu	CA50396469 NM_015120.4:c.5224G>C