ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104384
Gene: GDAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19234
ClinVar RCV:
RCV000004415
RCV000235864
RCV001235354
RCV002504741
ClinVar Variation:
4195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061845.2:p.Arg282Cys
CA116688
NM_018972.4:c.844C>T