ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072271
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4192
ClinVar RCV Id:
RCV000004412
RCV001200307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349861.1:p.Arg52His
CA116685
NM_001362932.2:c.155G>A