Canonical Allele Identifier: PA645495717
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426397
ClinVar RCV Id: RCV000489305 RCV001084303 RCV002431429
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Asp846Glu
CA1713373
NM_015120.4:c.2538C>G
CA347270450
NM_015120.4:c.2538C>A