ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827425275
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383539
ClinVar RCV Id:
RCV000417647
RCV001083313
RCV001165275
RCV002521642
RCV003912685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334973.1:p.Glu596Val
CA4214639
NM_001348044.3:c.1787A>T