Canonical Allele Identifier: PA645482458
Gene: PIKFYVE HGNC NCBI

Linked Data

ClinVar Variation Id: 333889
ClinVar RCV Id: RCV000375394

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055855.2:p.Asp508His
CA10612227
NM_015040.4:c.1522G>C