ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573096606
Gene: BBS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19608
ClinVar RCV:
RCV000004831
RCV001002877
ClinVar Variation:
4569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114091.4:p.Val75Gly
CA253233
NM_031885.5:c.224T>G