ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826110686
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_001167588.1:p.Arg1780His
CA7561375
NM_001174117.2:c.5339G>A