Canonical Allele Identifier: PA916051453
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 425337

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Ala502Ser
CA3069464
NM_152618.3:c.1504G>T