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: PA2825431128

Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 406821

ClinVar RCV Id: RCV000468414 RCV003380571

ClinVar Variation Id: 1749540

ClinVar RCV Id: RCV002359648

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001041639.1:p.Lys164Asn	CA16610120 NM_001048174.1:c.492G>T CA340135517 NM_001048174.1:c.492G>C