ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579818364
Gene: PTEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774185
ClinVar RCV Id:
RCV003585773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Ile280Lys
CA377485555
NM_000314.7:c.839T>A