ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828071848
Gene: GDAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
212639
ClinVar RCV:
RCV000200426
RCV000416100
RCV001159853
RCV001161257
RCV002345717
RCV002492919
ClinVar Variation:
216707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349859.1:p.Ile128Val
CA339304
NM_001362930.2:c.382A>G