ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116690
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4200
ClinVar RCV Id:
RCV000004420
RCV000034153
RCV000033147
RCV000439841
RCV000414821
RCV000779562
RCV000789780
RCV002362562
RCV002496254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061845.2:p.Leu239Phe
CA116689
NM_018972.4:c.715C>T