Canonical Allele Identifier: PA916028163
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40567
ClinVar RCV Id: RCV000077854 RCV000521890 RCV002399355 RCV002490449 RCV003147313 RCV003147314 RCV003147312 RCV004532497
ClinVar Variation Id: 811634
ClinVar RCV Id: RCV001001798 RCV001171895 RCV001261024 RCV003989616 RCV004528333
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317366.1:p.Gln514His
CA220143
NM_001330437.2:c.1542G>C
CA386779921
NM_001330437.2:c.1542G>T