Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA135842

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_005219.2:p.Ser768Ile	CA135840 NM_005228.5:c.2303G>T CA135843 NM_005228.5:c.2303_2304delinsTT