ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916051851
Gene: PIKFYVE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333884
ClinVar RCV Id:
RCV000267920
RCV004021791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689884.1:p.Thr22Pro
CA2079162
NM_152671.4:c.64A>C