ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828071941
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4195
ClinVar RCV Id:
RCV000004415
RCV000235864
RCV001235354
RCV002504741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349859.1:p.Arg224Cys
CA116688
NM_001362930.2:c.670C>T