Canonical Allele Identifier: PA2828765219
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2154172
ClinVar RCV Id: RCV003069145

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Arg2616Gln
CA347265954
NM_001378454.1:c.7847G>A