ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829183048
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2051850
ClinVar RCV Id:
RCV002927566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376557.1:p.Leu356Phe
CA5955086
NM_001389628.1:c.1066C>T