ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580524868
Gene: BBS12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.Ala4Ser
CA105249147
NM_152618.3:c.10G>T