ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056391
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135113
ClinVar RCV Id:
RCV000121912
RCV001854672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Ala50Thr
CA161779
NM_080601.3:c.148G>A