ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573208135
Gene: EXTL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347447
ClinVar RCV Id:
RCV002041699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001431.1:p.Glu348Lys
CA4696123
NM_001440.4:c.1042G>A