Canonical Allele Identifier: PA2573162199
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2254Arg
CA352654885
NM_000094.4:c.6760G>C
CA352654887
NM_000094.4:c.6760G>A