Canonical Allele Identifier: PA099659
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203368
ClinVar RCV Id: RCV002651685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2006Ala
CA352663866
NM_000094.4:c.6017G>C