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: PA180708

Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 177754

ClinVar RCV Id: RCV000154367 RCV000417864 RCV000425277 RCV000435950 RCV000443279 RCV000680626 RCV000824740 RCV000995620 RCV001813395

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002825.3:p.Ala72Thr	CA180706 NM_002834.5:c.214G>A