Canonical Allele Identifier: PA645473341
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 347503
ClinVar RCV Id: RCV000399304 RCV001094948 RCV003932413 RCV004546486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Val500Ala
CA3069461
NM_152618.3:c.1499T>C