ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827051499
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197364
ClinVar RCV Id:
RCV000178378
RCV001080709
RCV001120611
RCV003977463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307594.1:p.Ile70Val
CA245459
NM_001320665.2:c.208A>G