ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079433801
Gene: EPS8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004438.3:p.Gln30Glu
CA384036392
NM_004447.6:c.88C>G