Canonical Allele Identifier: PA1139698287
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 899583
ClinVar RCV Id: RCV001144239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Leu2032Phe
CA352663263
NM_000094.4:c.6094C>T