ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072345
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50559
ClinVar RCV Id:
RCV000043550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349861.1:p.Pro165Leu
CA263220
NM_001362932.2:c.494C>T