Allele Registry

Canonical Allele Identifier: PA2828762838

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000476920

RCV000732324

RCV001172510

RCV001358710

RCV002393077

ClinVar Variation:

403950

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365383.1:p.Leu537Val	CA1713199 NM_001378454.1:c.1609C>G