Canonical Allele Identifier: PA2499228269
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1189143
ClinVar RCV Id: RCV001549419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1821Asp
CA352672657
NM_000094.4:c.5462G>A