Canonical Allele Identifier: PA099645
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17430
ClinVar RCV Id: RCV000018976 RCV000414493 RCV000622440 RCV001831583 RCV003952360
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2003Arg
CA257940
NM_000094.4:c.6007G>A
CA352663967
NM_000094.4:c.6007G>C