ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400388
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
414310
ClinVar RCV Id:
RCV000834993
RCV001081138
RCV001262059
RCV001821326
RCV002402331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Arg571His
CA5252671
NM_001114753.3:c.1712G>A