Canonical Allele Identifier: PA2826132143
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 462965
ClinVar RCV Id: RCV000546031 RCV000709645 RCV001821532 RCV001144905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171478.1:p.Asn238Lys
CA3069317
NM_001178007.2:c.714T>G
CA358223533
NM_001178007.2:c.714T>A