ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA099884
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17457
ClinVar RCV Id:
RCV000019008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2076Asp
CA257958
NM_000094.4:c.6227G>A