Canonical Allele Identifier: PA2580376505
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2186015
ClinVar RCV Id: RCV002619944
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055935.4:p.Asn2619Lys
CA347265998
NM_015120.4:c.7857C>A
CA347266001
NM_015120.4:c.7857C>G