ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043161
Gene: EGF
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001343950.1:p.Pro947Leu
NM_001357021.2:c.2840C>T