×
SERVICES INTERRUPTION:
2026-08-07T10:00:00-0500
—
2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645381169
Gene: COL7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2281Ala
CA16617982
NM_000094.4:c.6842G>C