ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828489542
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283781
ClinVar RCV Id:
RCV000266879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358379.1:p.His70Arg
CA2109626
NM_001371450.1:c.209A>G