ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828072130
Gene: GDAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171416
ClinVar Variation:
191228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349860.1:p.Pro144Leu
CA236305
NM_001362931.2:c.431C>T