Canonical Allele Identifier: PA2573162154
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685283
ClinVar RCV Id: RCV002249010
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2012Val
CA352663733
NM_000094.4:c.6035G>T