ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247962
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.8900401888
Score
1.133807218
Score
0.8290984315
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167422
RCV000212888
RCV000538790
RCV000585009
RCV003462242
ClinVar Variation:
187673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Pro391Ser
CA000118
NM_000314.7:c.1171C>T