Canonical Allele Identifier: PA099894
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1212890
ClinVar RCV Id: RCV001586537 RCV002276821 RCV003900816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2079Arg
CA352662333
NM_000094.4:c.6235G>C
CA352662335
NM_000094.4:c.6235G>A