ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827390967
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134018
ClinVar RCV Id:
RCV000120687
RCV001854609
RCV002257418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333828.1:p.Asp348His
CA158432
NM_001346899.1:c.1042G>C