ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195590
Gene: EXTL3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001431.1:p.Pro318Leu
NM_001440.4:c.953C>T