ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827021378
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2177843
ClinVar RCV Id:
RCV002595304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305765.1:p.Arg104Cys
CA350627929
NM_001318836.2:c.310C>T