Canonical Allele Identifier: PA2826131108
Gene: PIKFYVE HGNC NCBI

Linked Data

ClinVar Variation Id: 333889
ClinVar RCV Id: RCV000375394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171471.1:p.Asp508His
CA10612227
NM_001178000.2:c.1522G>C