ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741943388
Gene: PIKFYVE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2607383
ClinVar RCV Id:
RCV003355260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.Asp1168Gly
CA350115683
NM_015040.4:c.3503A>G