ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072347
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2627522
ClinVar RCV Id:
RCV003388785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349861.1:p.Leu167Trp
CA371550336
NM_001362932.2:c.500T>G