ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828488878
Gene: BCS1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358377.1:p.Pro2Leu
CA350624667
NM_001371448.1:c.5C>T