Canonical Allele Identifier: PA2580106612
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1569Arg
CA73979493
NM_000094.4:c.4705G>A
CA352685614
NM_000094.4:c.4705G>C