ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913199483
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
618623
ClinVar RCV Id:
RCV001263078
RCV000757215
RCV002370008
RCV003594026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Leu300Pro
CA374982452
NM_001114753.3:c.899T>C