ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355162
Gene: BBS12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220303
ClinVar RCV Id:
RCV000203973
RCV000499807
RCV000668722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.Arg525His
CA348258
NM_152618.3:c.1574G>A