Canonical Allele Identifier: PA100061
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17429
ClinVar RCV Id: RCV000018975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2623Cys
CA127188
NM_000094.4:c.7867G>T