ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101113
Gene: GFER
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005253.3:p.Arg194His
NM_005262.3:c.581G>A