ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741983861
Gene: BBS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3028232
ClinVar RCV Id:
RCV003889602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078925.3:p.Ser158Gly
CA381457371
NM_024649.5:c.472A>G