Canonical Allele Identifier: PA2499228305
Gene: COL7A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly174Arg
CA352746225
NM_000094.4:c.520G>C
CA352746226
NM_000094.4:c.520G>A