ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499294442
Gene: BBS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149017.2:p.Ala7Pro
CA393075057
NM_033028.5:c.19G>C