ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400250
Gene: ENG
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000455548
RCV001299080
RCV002480332
ClinVar Variation:
402828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001108225.1:p.Val125Ala
CA5253132
NM_001114753.3:c.374T>C