Allele Registry

Canonical Allele Identifier: PA2828764550

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000558186

RCV002358477

ClinVar Variation:

459876

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Gln2007Arg	CA50397314 NM_001378454.1:c.6020A>G