Canonical Allele Identifier: PA2828762487
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221018
ClinVar RCV Id: RCV000224355 RCV000424132 RCV000445509 RCV001082986 RCV002363032
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro224His
CA349503
NM_001378454.1:c.671C>A