ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828488328
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625207
ClinVar RCV Id:
RCV000778592
RCV000850204
RCV001003574
RCV001003575
RCV001855960
RCV003472287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358375.1:p.Arg90Cys
CA2109634
NM_001371446.1:c.268C>T