ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139720057
Gene: FIG4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055660.1:p.Arg483Gln
CA3956101
NM_014845.6:c.1448G>A