ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825698895
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199176
ClinVar RCV Id:
RCV000271246
RCV000328674
RCV000657059
RCV001001623
RCV001087807
RCV001847821
RCV002444724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Arg256Cys
CA248240
NM_001130702.2:c.766C>T