ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827054604
Gene: BCS1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307646.1:p.Thr138Met
CA2109660
NM_001320717.2:c.413C>T