ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530439
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40506
ClinVar RCV Id:
RCV000033483
RCV000157021
RCV000212893
RCV001261998
RCV001813247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Asp105Ala
CA261584
NM_001374625.1:c.314A>C