ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028145
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000159056
RCV001002766
RCV001261020
RCV001813411
RCV002515083
RCV003764999
ClinVar Variation:
181503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Pro495Ala
CA297097
NM_001330437.2:c.1483C>G