Canonical Allele Identifier: PA2741811622
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2791518
ClinVar RCV Id: RCV003672535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2089Arg
CA73976976
NM_000094.4:c.6266C>G