ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072113
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245933
ClinVar RCV Id:
RCV000236743
RCV000805046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349860.1:p.Glu126Lys
CA10584293
NM_001362931.2:c.376G>A