ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645507544
Gene: PTEN
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000305.3:p.Arg47Lys
NM_000314.7:c.140G>A
NM_000314.7:c.140_141delinsAA