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: PA658678367

Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 449207

ClinVar RCV Id: RCV000523194 RCV000662299 RCV000647345 RCV000764095 RCV000851260

ClinVar Variation Id: 1465042

ClinVar RCV Id: RCV001963599

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002377.4:p.Gly89Arg	CA8255541 NM_002386.4:c.265G>A CA8255542 NM_002386.4:c.265G>C