Canonical Allele Identifier: PA916051411
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1150
ClinVar RCV Id: RCV000001209 RCV001042718 RCV001073577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Ala289Pro
CA251711
NM_152618.3:c.865G>C