Canonical Allele Identifier: PA2580106973
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Ser2936Arg
CA2377871
NM_000094.4:c.8808C>G
CA352632453
NM_000094.4:c.8808C>A
CA352632473
NM_000094.4:c.8806A>C