ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826581579
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361304
ClinVar RCV Id:
RCV001907463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265067.1:p.Ser249Leu
CA5252819
NM_001278138.2:c.746C>T