Canonical Allele Identifier: PA2741811617
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2861748
ClinVar RCV Id: RCV003704498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2076Ser
CA352662379
NM_000094.4:c.6226G>A