ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253043
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4202
ClinVar RCV Id:
RCV000004422
RCV000214299
RCV000703370
RCV000857208
RCV002362563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061845.2:p.Pro231Leu
CA253042
NM_018972.4:c.692C>T