ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056450
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376511
ClinVar RCV Id:
RCV000420417
RCV000430256
RCV000440942
RCV000441142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Ala72Asp
CA16602941
NM_080601.3:c.215C>A