ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828807147
Gene: FREM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1949825
ClinVar RCV Id:
RCV002671250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366010.1:p.Thr1416Met
CA4990242
NM_001379081.2:c.4247C>T