Canonical Allele Identifier: PA1139698401
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 903133
ClinVar RCV Id: RCV001150258 RCV001294764 RCV001278917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2598Leu
CA2378317
NM_000094.4:c.7793C>T