ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828489521
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6168
ClinVar RCV Id:
RCV000006543
RCV001851700
RCV003472988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358379.1:p.Arg45Cys
CA118010
NM_001371450.1:c.133C>T