ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580214962
Gene: AMFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310441.1:p.Arg568Cys
CA8064293
NM_001323512.2:c.1702C>T