Canonical Allele Identifier: PA2580106758
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Leu2246Phe
CA2378857
NM_000094.4:c.6738G>T
CA352655086
NM_000094.4:c.6738G>C