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: PA259125

Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24773

ClinVar RCV Id: RCV001090396

ClinVar Variation Id: 870368

ClinVar RCV Id: RCV001089928

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_203699.1:p.Met1607Ile	CA259123 NM_033380.3:c.4821G>A CA414132626 NM_033380.3:c.4821G>C CA414132627 NM_033380.3:c.4821G>T