ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645482463
Gene: PIKFYVE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333893
ClinVar RCV Id:
RCV000295958
RCV002521372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.Met617Val
CA2079668
NM_015040.4:c.1849A>G