Canonical Allele Identifier: PA099825
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1047980
ClinVar RCV Id: RCV001352764 RCV002547567 RCV003339611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2049Glu
CA352662972
NM_000094.4:c.6146G>A