Canonical Allele Identifier: PA2826132251
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035674
ClinVar RCV Id: RCV001338574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Met385Ile
CA358224514
NM_001178007.2:c.1155G>A
CA358224515
NM_001178007.2:c.1155G>C
CA358224516
NM_001178007.2:c.1155G>T