ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239078
Gene: FREM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193532
ClinVar RCV Id:
RCV000173606
RCV000341512
RCV000872037
RCV003907554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997244.4:p.Arg710Cys
CA239077
NM_207361.6:c.2128C>T