ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827051575
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445986
ClinVar RCV Id:
RCV000515003
RCV001245807
RCV003915439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307594.1:p.Ile172Val
CA7646663
NM_001320665.2:c.514A>G