ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239677
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116427.1:p.Arg456His
CA239675
NM_001122955.4:c.1367G>A