Canonical Allele Identifier: PA149563
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 96504
ClinVar RCV Id: RCV000082656 RCV000513736 RCV000626298 RCV000709646 RCV001080843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Ile39Thr
CA149562
NM_001178007.2:c.116T>C