ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118039
Gene: BCS1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244273.1:p.Thr50Ala
CA118036
NM_001257344.2:c.148A>G