ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100748
Gene: EGF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001954.2:p.Pro1070Leu
NM_001963.6:c.3209C>T