ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913201959
Gene: BBS12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.Thr501Met
CA3069462
NM_152618.3:c.1502C>T