ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486881
Gene: BCS1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480400
ClinVar Variation:
423549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004319.1:p.Leu280Phe
CA16617468
NM_004328.5:c.838C>T