ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826440774
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
556141
ClinVar RCV Id:
RCV000672098
RCV001868262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244272.1:p.Gln85del
CA658822536
NM_001257343.2:c.255_257del