ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057551252
Gene: COL7A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005180260
ClinVar Variation:
3699390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000085.1:p.Gly1480Asp
CA352691460
NM_000094.4:c.4439G>A