Canonical Allele Identifier: PA2828763812
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393372
ClinVar RCV Id: RCV000537876 RCV000445475 RCV004022532
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro1388Leu
CA1713648
NM_001378454.1:c.4163C>T