ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827395258
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45251
ClinVar RCV Id:
RCV000038407
RCV000435248
RCV000428042
ClinVar Variation Id:
45252
ClinVar RCV Id:
RCV000038408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333870.1:p.Ser501Ile
CA135840
NM_001346941.2:c.1502G>T
CA135843
NM_001346941.2:c.1502_1503delinsTT