ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200863
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128532
ClinVar RCV Id:
RCV000116504
RCV000174173
RCV000664139
RCV001082147
RCV000300263
RCV001847675
RCV000357438
RCV002426660
RCV002498501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116056.3:p.Leu363Pro
CA200862
NM_032667.6:c.1088T>C