ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726953
Gene: PIKFYVE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.Val652Ile
CA2079685
NM_015040.4:c.1954G>A