ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829061362
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1320470
ClinVar RCV Id:
RCV001776449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Ser109Pro
CA380970542
NM_001386027.1:c.325T>C