ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573162201
Gene: COL7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2260Arg
CA352654777
NM_000094.4:c.6778G>C