Canonical Allele Identifier: PA645380716
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225324
ClinVar RCV Id: RCV000490263 RCV001144588 RCV001853382 RCV002503832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg990Gln
CA2380685
NM_000094.4:c.2969G>A