Canonical Allele Identifier: PA645380948
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345828
ClinVar RCV Id: RCV000344213 RCV001423348
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1977Leu
CA2379243
NM_000094.4:c.5930G>T