Canonical Allele Identifier: PA2741811608
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2782167
ClinVar RCV Id: RCV003663788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Lys2038_Gly2040dup