ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573162144
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1399818
ClinVar RCV Id:
RCV001917877
RCV002482770
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly1901Ser
CA2379372
NM_000094.4:c.5701G>A