Canonical Allele Identifier: PA645471014
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 425337
ClinVar RCV Id: RCV000487758 RCV001199434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Ala502Ser
CA3069464
NM_001178007.2:c.1504G>T