ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827054553
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
554974
ClinVar RCV Id:
RCV000670706
RCV000778591
RCV001171821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307646.1:p.Arg73Cys
CA2109627
NM_001320717.2:c.217C>T