Canonical Allele Identifier: PA915956622
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 746194
ClinVar RCV Id: RCV000922787 RCV001150557 RCV003970501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1520Leu
CA2379961
NM_000094.4:c.4559C>T