Canonical Allele Identifier: PA2580106720
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1954542
ClinVar RCV Id: RCV002715057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Thr2083Ile
CA352662252
NM_000094.4:c.6248C>T