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: PA916056444

Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 224414

ClinVar RCV Id: RCV000210038 RCV001250211 RCV002415881

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_542168.1:p.Glu69Lys	CA354979 NM_080601.3:c.205G>A