ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828488678
Gene: BCS1L
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000049826
ClinVar Variation:
56413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358376.1:p.Arg144Gln
CA144345
NM_001371447.1:c.431G>A