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: PA2827395329

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 16613

ClinVar RCV Id: RCV000018088 RCV000154233 RCV000211319 RCV000154232 RCV000425417 RCV000557450 RCV001015308 RCV001588815 RCV001823098 RCV001787805 RCV003466864 RCV003996105

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333870.1:p.Thr523Met	CA090928 NM_001346941.2:c.1568C>T