ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312730
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000037626
RCV000157676
RCV000456871
RCV002470725
ClinVar Variation:
40486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Asn58His
CA235310
NM_001330437.2:c.172A>C