ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079271060
Gene: CHFR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001154818.1:p.Ala485Val
CA6898041
NM_001161346.2:c.1454C>T