ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072136
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2866654
ClinVar RCV Id:
RCV003611093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349860.1:p.Ser150Phe
CA371548894
NM_001362931.2:c.449C>T