Canonical Allele Identifier: PA099434
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951382
ClinVar RCV Id: RCV001223280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg2008Gly
CA73977057
NM_000094.4:c.6022C>G