Allele Registry

Canonical Allele Identifier: PA658811380

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000595407

RCV000664857

RCV002377234

ClinVar Variation:

499779

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Ser3198Thr	CA1714705 NM_015120.4:c.9592T>A