ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826140424
Gene: EGF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171602.1:p.Arg389Lys
CA3043626
NM_001178131.3:c.1166G>A