ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063892474
Gene: EPS15
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001972.1:p.Ser438Leu
CA847783
NM_001981.3:c.1313C>T