Canonical Allele Identifier: PA2828765223
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2186015
ClinVar RCV Id: RCV002619944

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Asn2618Lys
CA347265998
NM_001378454.1:c.7854C>A
CA347266001
NM_001378454.1:c.7854C>G