ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828071969
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449535
ClinVar RCV Id:
RCV000519479
RCV000789782
RCV001383587
RCV003447143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349859.1:p.Arg252Gln
CA371550563
NM_001362930.2:c.755G>A