ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118045
Gene: BCS1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004319.1:p.Arg183Cys
NM_004328.5:c.547C>T