Canonical Allele Identifier: PA2741811620
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3063800
ClinVar RCV Id: RCV003988388
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2086Leu
CA73976984
NM_000094.4:c.6257C>T