ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573295760
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1375048
ClinVar RCV Id:
RCV001883248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149017.2:p.Ala2Val
CA272613050
NM_033028.5:c.5C>T