Canonical Allele Identifier: PA1139698280
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991493
ClinVar RCV Id: RCV001279713 RCV002486063 RCV002541718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Asp2007Glu
CA2379210
NM_000094.4:c.6021C>A
CA352663826
NM_000094.4:c.6021C>G