ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828071814
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2959635
ClinVar RCV Id:
RCV003811810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349859.1:p.His82Arg
CA371499517
NM_001362930.2:c.245A>G