ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580376432
Gene: FIG4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055660.1:p.Pro224Ser
CA365220537
NM_014845.6:c.670C>T