ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180708
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002825.3:p.Ala72Thr
NM_002834.5:c.214G>A