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: PA2573215449

Gene: CCDC78 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352227

ClinVar RCV Id: RCV002049418

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364959.1:p.Phe345Leu	CA394098785 NM_001378030.1:c.1035C>G CA394098789 NM_001378030.1:c.1035C>A CA394098801 NM_001378030.1:c.1033T>C