ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072266
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4199
ClinVar RCV Id:
RCV000004419
RCV001533514
RCV000798174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349861.1:p.Thr48Pro
CA253038
NM_001362932.2:c.142A>C