Canonical Allele Identifier: PA2741811591
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2734515
ClinVar RCV Id: RCV003555071
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1860Arg
CA352670309
NM_000094.4:c.5578G>C
CA352670341
NM_000094.4:c.5578G>A