ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826840126
Gene: COL8A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2990438
ClinVar RCV Id:
RCV003845133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001281276.1:p.Glu503Lys
CA764894
NM_001294347.2:c.1507G>A