ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826355266
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9145
ClinVar RCV Id:
RCV000009716
RCV001002881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001239607.1:p.Arg123Pro
CA254669
NM_001252678.2:c.368G>C