Canonical Allele Identifier: PA2828763482
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459864
ClinVar RCV Id: RCV000534661 RCV001549994 RCV001449720 RCV002323937
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Pro1103Ala
CA1713501
NM_001378454.1:c.3307C>G