ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099687
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17449
ClinVar RCV Id:
RCV000019000
RCV000760150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2015Glu
CA257950
NM_000094.4:c.6044G>A