ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741943426
Gene: PIKFYVE
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003923897
ClinVar Variation:
3039931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055855.2:p.Met1624Val
CA2080471
NM_015040.4:c.4870A>G