ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573304302
Gene: BBS12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.His104Tyr
CA358222647
NM_152618.3:c.310C>T