ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828770275
Gene: DMXL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365388.1:p.Pro2836Thr
CA392429962
NM_001378459.1:c.8506C>A