ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828806889
Gene: FREM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30767
ClinVar RCV Id:
RCV000023746
RCV000059636
RCV000207399
RCV000988143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366010.1:p.Arg498Gln
CA129451
NM_001379081.2:c.1493G>A