ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA263219
Gene: GDAP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_061845.2:p.His123Arg
NM_018972.4:c.368A>G