ClinGen Allele Registry
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Canonical Allele Identifier:
PA645394701
Gene: INPP5E
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489080
RCV001797738
RCV001865518
ClinVar Variation:
426905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_063945.2:p.Arg557Cys
CA201638375
NM_019892.6:c.1669C>T