Canonical Allele Identifier: PA645380837
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379308
ClinVar RCV Id: RCV000417818
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1643Asp
CA16604481
NM_000094.4:c.4928G>A