ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078520
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Leu429Pro
CA200862
NM_001386027.1:c.1286T>C