ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400293
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226041
ClinVar RCV Id:
RCV000211433
RCV000859173
RCV002262803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Arg199His
CA5253073
NM_001114753.3:c.596G>A