ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580106607
Gene: COL7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1676640
ClinVar RCV Id:
RCV002277076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly1534Glu
CA352687647
NM_000094.4:c.4601G>A