Allele Registry

Canonical Allele Identifier: PA645495647

Gene: ALMS1 HGNC NCBI

ClinVar RCV:

RCV000498257

RCV001319114

RCV003323572

ClinVar Variation:

432725

HGVS (amino-acid)	Matching Registered Transcripts
NP_055935.4:p.Val117Ile	CA50351990 NM_015120.4:c.349G>A