Canonical Allele Identifier: PA645381155
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2257Arg
CA10602884
NM_000094.4:c.6769G>A
CA352654828
NM_000094.4:c.6769G>C