ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580389598
Gene: PIKFYVE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.His1348Tyr
CA2080209
NM_015040.4:c.4042C>T