Canonical Allele Identifier: PA100055
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2575Arg
CA10588366
NM_000094.4:c.7723G>A
CA352643064
NM_000094.4:c.7723G>C