ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825043957
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2848235
ClinVar RCV Id:
RCV003758553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Ala111Thr
CA5253159
NM_000118.3:c.331G>A