ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658830052
Gene: BBS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550360
ClinVar RCV Id:
RCV000665087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078925.3:p.Glu354Gly
CA381462544
NM_024649.5:c.1061A>G