Canonical Allele Identifier: PA2828765391
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2283901
ClinVar RCV Id: RCV004134507

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Ser2770Tyr
CA1714443
NM_001378454.1:c.8309C>A