ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658816342
Gene: BCS1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523399
ClinVar RCV Id:
RCV000626741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004319.1:p.Val272Met
CA350630384
NM_004328.5:c.814G>A