ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579817966
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9140687531
Score
0.7062839073
Score
0.9919880703
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Gln245Glu
CA377484959
NM_000314.7:c.733C>G