ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828487999
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214160
ClinVar RCV Id:
RCV000197059
RCV000415034
RCV000623904
RCV000675122
RCV001810436
RCV003474948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358373.1:p.Arg69Cys
CA321501
NM_001371444.1:c.205C>T