ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826355354
Gene: BBS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239607.1:p.Ile182Thr
CA179792
NM_001252678.2:c.545T>C