Canonical Allele Identifier: PA099418
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522791
ClinVar RCV Id: RCV000625955 RCV000789046 RCV001216539
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg2008Cys
CA352663824
NM_000094.4:c.6022C>T