Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

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