Canonical Allele Identifier: PA2573162169
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488769
ClinVar RCV Id: RCV002001324
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2082Val
CA352662269
NM_000094.4:c.6245G>T