ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743099
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_001358380.1:p.Arg83_Val85del
CA539839958
NM_001371451.1:c.247_255del