ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828772991
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_001365391.1:p.Arg2416His
CA7561375
NM_001378462.1:c.7247G>A