Canonical Allele Identifier: PA2828766449
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2839113
ClinVar RCV Id: RCV003608746

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys3676Asn
CA347286993
NM_001378454.1:c.11028G>C
CA347286994
NM_001378454.1:c.11028G>T