ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827387270
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376209
ClinVar RCV Id:
RCV000423404
RCV000423749
RCV000439402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333826.1:p.Ala244Val
CA16602664
NM_001346897.1:c.731C>T