ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916051453
Gene: BBS12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425337
ClinVar RCV Id:
RCV000487758
RCV001199434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.Ala502Ser
CA3069464
NM_152618.3:c.1504G>T