Canonical Allele Identifier: PA1139698229
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991824
ClinVar RCV Id: RCV001280100 RCV002542942 RCV003235534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1814His
CA2379493
NM_000094.4:c.5441G>A