ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580106709
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695074
ClinVar RCV Id:
RCV002263324
RCV003994420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2043Glu
CA352663066
NM_000094.4:c.6128G>A