ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA277928
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001116427.1:p.Ala276Pro
NM_001122955.4:c.826G>C