ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830157457
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Pro424Leu
CA386777180
NM_080601.3:c.1271C>T