Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580106924

Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2184476

ClinVar RCV Id: RCV002632245

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg2795His	CA2378041 NM_000094.4:c.8384G>A