Allele Registry

Canonical Allele Identifier: PA658811212

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000634786

RCV002264966

RCV002458020

ClinVar Variation:

529375

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Thr1139Ala	CA1713521 NM_015120.4:c.3415A>G