ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028147
Gene: PTPN11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
49020
ClinVar RCV:
RCV000033536
RCV000157010
RCV000254684
RCV000984919
RCV001813257
ClinVar Variation:
40550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Pro495Ser
CA261543
NM_001330437.2:c.1483C>T