Allele Registry

Canonical Allele Identifier: PA658667259

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000541151

RCV002448655

ClinVar Variation:

459892

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Phe2807Val	CA1714466 NM_015120.4:c.8419T>G