ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827423443
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194138
ClinVar RCV Id:
RCV000174426
RCV000204910
RCV000515021
RCV001095289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334970.1:p.Ala427Val
CA200975
NM_001348041.4:c.1280C>T