ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826131075
Gene: PIKFYVE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333884
ClinVar RCV Id:
RCV000267920
RCV004021791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171471.1:p.Thr22Pro
CA2079162
NM_001178000.2:c.64A>C