Canonical Allele Identifier: PA2580376597
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762741
ClinVar RCV Id: RCV002430252

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Pro2762Thr
CA347268104
NM_015120.4:c.8284C>A
CA2580068250
NM_015120.4:c.8284_8286delinsACT