ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828472720
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2161937
ClinVar RCV Id:
RCV003089752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361014.1:p.Arg73His
CA2109628
NM_001374085.1:c.218G>A