ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827051458
Gene: BBS4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
317058
ClinVar RCV Id:
RCV001094446
RCV000400282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307594.1:p.Pro13Ser
CA7646456
NM_001320665.2:c.37C>T