ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573075337
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_001365392.1:p.Arg2417His
CA7561375
NM_001378463.1:c.7250G>A