ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645468700
Gene: FIG4
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_055660.1:p.Glu813del
NM_014845.6:c.2439_2441del