ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480034
Gene: DMXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431430
ClinVar RCV Id:
RCV000496988
RCV002524064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167587.1:p.Arg2417His
CA7561375
NM_001174116.2:c.7250G>A