Canonical Allele Identifier: PA100141
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2749Arg
CA257965
NM_000094.4:c.8245G>A
CA352638960
NM_000094.4:c.8245G>C