ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099747
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2636169
ClinVar RCV Id:
RCV003393109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly2034Trp
CA352663222
NM_000094.4:c.6100G>T