ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826441040
Gene: BCS1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244272.1:p.Gly235Arg
CA2109731
NM_001257343.2:c.703G>C
CA2109732
NM_001257343.2:c.703G>A