ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828507800
Gene: GFM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214500
ClinVar RCV Id:
RCV000197077
RCV000763507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361287.1:p.Arg518Cys
CA321516
NM_001374358.1:c.1552C>T