ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828072141
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406135
ClinVar RCV Id:
RCV000471926
RCV000789054
RCV001836822
RCV002506106
RCV003447135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349860.1:p.Pro153Leu
CA4785102
NM_001362931.2:c.458C>T