ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645429174
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_149017.2:p.Pro13Ser
CA7646456
NM_033028.5:c.37C>T