Canonical Allele Identifier: PA2573162150
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385523
ClinVar RCV Id: RCV001888862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1978Gln
CA2379242
NM_000094.4:c.5933G>A