ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400368
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
414304
ClinVar RCV Id:
RCV001084927
RCV003970317
RCV003640900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Val483Ile
CA5252756
NM_001114753.3:c.1447G>A