ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA351523
Gene: AMFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135.3:p.Arg596Cys
CA351522
NM_001144.6:c.1786C>T