ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573162152
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1495833
ClinVar RCV Id:
RCV002028364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Ile1996Val
CA2379219
NM_000094.4:c.5986A>G