Canonical Allele Identifier: PA645473343
Gene: BBS12 HGNC NCBI

Linked Data

ClinVar Variation Id: 434492
ClinVar RCV Id: RCV000503271 RCV000801690 RCV000787787 RCV001073940 RCV003419857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689831.2:p.Gln511_Gln513del
CA3069471
NM_152618.3:c.1531_1539del