ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645482458
Gene: PIKFYVE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333889
ClinVar RCV Id:
RCV000375394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.Asp508His
CA10612227
NM_015040.4:c.1522G>C