ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828806897
Gene: FREM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137483
ClinVar RCV Id:
RCV003058411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366010.1:p.Pro522Leu
CA4991198
NM_001379081.2:c.1565C>T