Canonical Allele Identifier: PA2828766804
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423689
ClinVar RCV Id: RCV000485283 RCV001040891 RCV001264558 RCV002350076
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Thr3980Ile
CA1715388
NM_001378454.1:c.11939C>T