ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826441532
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551244
ClinVar RCV Id:
RCV000666246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244273.1:p.Arg203_Val205del
CA539839958
NM_001257344.2:c.607_615del