Canonical Allele Identifier: PA2825065421
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 504437
ClinVar RCV Id: RCV000599125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Val2286_Pro2294del
CA658796304
NM_000094.4:c.6855_6881del