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: CA2573104844

Gene: MT-CO1 HGNC NCBI

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Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.7346dup , J01415.2:m.7346dup	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361624.2:c.1443dup	ENSP00000354499.2:p.Val482SerfsTer?

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