ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825044384
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439648
ClinVar RCV Id:
RCV000508217
RCV001370738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Ala243Thr
CA5253001
NM_000118.3:c.727G>A