ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828072343
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246285
ClinVar RCV Id:
RCV000236133
RCV001066504
RCV004526651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349861.1:p.Arg164Gln
CA10584294
NM_001362932.2:c.491G>A