Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA916028156

Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40561

ClinVar RCV Id: RCV000033548 RCV000532971 RCV000677651 RCV001330778 RCV002490448 RCV003450655

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317366.1:p.Gly507Glu	CA282132 NM_001330437.2:c.1520G>A