ClinGen Allele Registry
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Canonical Allele Identifier:
PA645475956
Gene: MFRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288043
ClinVar RCV Id:
RCV000292299
RCV000328679
RCV000393490
RCV001104031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113621.1:p.Arg266Cys
CA6320385
NM_031433.4:c.796C>T