Allele Registry

Canonical Allele Identifier: PA2828763524

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000634786

RCV002264966

RCV002458020

ClinVar Variation:

529375

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Thr1138Ala	CA1713521 NM_001378454.1:c.3412A>G