Canonical Allele Identifier: PA1139698242
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991502
ClinVar RCV Id: RCV001279724 RCV002541721 RCV002542932
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1822Leu
CA2379491
NM_000094.4:c.5465C>T