Canonical Allele Identifier: PA2828716049
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 554915
ClinVar RCV Id: RCV000670631 RCV002507171 RCV002531255
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Phe112Leu
CA8066080
NM_001377456.1:c.334T>C
CA395985332
NM_001377456.1:c.336C>G
CA395985334
NM_001377456.1:c.336C>A