Canonical Allele Identifier: PA645381188
Gene: COL7A1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2360Arg
CA16042511
NM_000094.4:c.7078G>A
CA352651554
NM_000094.4:c.7078G>C