ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828489716
Gene: BCS1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358379.1:p.Leu280Phe
CA16617468
NM_001371450.1:c.838C>T