ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580320198
Gene: GCHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004122791
ClinVar Variation:
2266868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005249.1:p.Cys80Arg
CA7484883
NM_005258.3:c.238T>C