ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112951
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1671439797
Score
0.3379082169
Score
0.2137160444
Linked Data - NCBI & NCI
ClinVar Allele:
22889
ClinVar RCV:
RCV000008300
RCV000645053
RCV002468966
ClinVar Variation:
7850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Phe241Ser
CA000555
NM_000314.7:c.722T>C