Canonical Allele Identifier: PA1139698146
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 903331
ClinVar RCV Id: RCV001150558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1514Cys
CA352688684
NM_000094.4:c.4540C>T