ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239074
Gene: FREM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997244.4:p.Ser527Leu
CA239073
NM_207361.6:c.1580C>T