Allele Registry

Canonical Allele Identifier: PA2828765640

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000461372

RCV000786095

ClinVar Variation:

403947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Pro2974Ser	CA16611112 NM_001378454.1:c.8920C>T