Canonical Allele Identifier: PA645473335
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 347502
ClinVar RCV Id: RCV000669919 RCV001386881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Cys426Tyr
CA10617032
NM_152618.3:c.1277G>A