ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825044998
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237024
ClinVar RCV Id:
RCV000233031
RCV000414391
RCV001169423
RCV002408948
RCV003221872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Val588Ile
CA5252632
NM_000118.3:c.1762G>A