ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312839
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000014268
RCV000033480
RCV000037641
RCV000157680
RCV000515381
RCV000590740
RCV001813202
RCV002453257
RCV004532344
ClinVar Variation:
13340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Gln79Arg
CA235322
NM_001330437.2:c.236A>G