Canonical Allele Identifier: PA645381213
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265077
ClinVar RCV Id: RCV000254743 RCV003989510
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2481Asp
CA10588367
NM_000094.4:c.7442G>A