Canonical Allele Identifier: PA099957
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2242Arg
CA127194
NM_000094.4:c.6724G>A
CA204663
NM_000094.4:c.6724G>C