Canonical Allele Identifier: PA645473348
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 434490
ClinVar RCV Id: RCV000499698 RCV000625333 RCV000709681 RCV001145003 RCV001584212 RCV003424055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Gln620Arg
CA3069524
NM_152618.3:c.1859A>G