ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827192972
Gene: AMFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310440.1:p.Arg212Cys
CA8064498
NM_001323511.2:c.634C>T