Canonical Allele Identifier: PA2580106598
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2162358
ClinVar RCV Id: RCV003070199 RCV004071978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1514His
CA2379965
NM_000094.4:c.4541G>A