Allele Registry

Canonical Allele Identifier: PA658667191

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000558186

RCV002358477

ClinVar Variation:

459876

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Gln2008Arg	CA50397314 NM_015120.4:c.6023A>G