ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828071912
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467770
ClinVar RCV Id:
RCV000526351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349859.1:p.Ala194Thr
CA4785196
NM_001362930.2:c.580G>A