ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580481119
Gene: ESPN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113663.2:p.Pro117Thr
CA338086071
NM_031475.3:c.349C>A