Canonical Allele Identifier: PA334782
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 188395
ClinVar RCV Id: RCV000168458 RCV000584997 RCV000665631 RCV003407625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Thr380Ile
CA334780
NM_152618.3:c.1139C>T