ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813532
Gene: BBS10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499947
ClinVar RCV Id:
RCV000591353
RCV000680159
RCV001244429
RCV003980090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078961.3:p.Ala479Glu
CA6694173
NM_024685.4:c.1436C>A