ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580460128
Gene: PRAMEF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2275029
ClinVar RCV Id:
RCV004128468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075390.1:p.Arg334His
CA608251
NM_023014.1:c.1001G>A