ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813041
Gene: FMR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002015.1:p.Arg527His
CA10536348
NM_002024.5:c.1580G>A