ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139676045
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949981
ClinVar RCV Id:
RCV001221584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Thr596Ala
CA374972121
NM_001114753.3:c.1786A>G