ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830319882
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_689884.1:p.Asp411His
CA10612227
NM_152671.4:c.1231G>C