ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233520
Gene: BBS4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149017.2:p.Asn350Ser
CA233519
NM_033028.5:c.1049A>G