ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA257964
Gene: COL7A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019010
RCV000255683
RCV001831586
ClinVar Variation:
17459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Arg2471Ter