Canonical Allele Identifier: PA338135
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 215969
ClinVar RCV Id: RCV000198717 RCV000393607 RCV001144903 RCV001657986
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Asn71Ser
CA338134
NM_001178007.2:c.212A>G