ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112753
Gene: PTEN
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0092519412
Score
0.2674470892
Score
0.1488617904
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000570318
RCV000690305
RCV003451267
ClinVar Variation:
484614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000305.3:p.Asp107Tyr
CA377482178
NM_000314.7:c.319G>T