Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2829511227

Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 2440844

ClinVar RCV Id: RCV003146145

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004013.2:p.Phe739Leu	CA328407915 NM_004022.3:c.2217T>A CA412649534 NM_004022.3:c.2217T>G CA412649541 NM_004022.3:c.2215T>C