Allele Registry

Canonical Allele Identifier: PA2828765423

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000541151

RCV002448655

ClinVar Variation:

459892

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Phe2806Val	CA1714466 NM_001378454.1:c.8416T>G