ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828490080
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
126497
ClinVar RCV Id:
RCV000114392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358381.1:p.Tyr134Asn
CA151154
NM_001371452.1:c.400T>A