ClinGen Allele Registry
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Canonical Allele Identifier:
PA239074
Gene: FREM2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190694
ClinVar RCV:
RCV000293781
RCV000724593
RCV001818413
RCV003955015
ClinVar Variation:
193530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997244.4:p.Ser527Leu
CA239073
NM_207361.6:c.1580C>T