Canonical Allele Identifier: PA658679786
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449666
ClinVar RCV Id: RCV000521615 RCV001195226 RCV001272349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg2002His
CA2379216
NM_000094.4:c.6005G>A