Canonical Allele Identifier: PA645380849
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 279789
ClinVar RCV Id: RCV000296567
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1676Glu
CA10602916
NM_000094.4:c.5027G>A