Canonical Allele Identifier: PA645380898
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379309
ClinVar RCV Id: RCV000424969
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1764Ala
CA16604608
NM_000094.4:c.5291G>C