ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829183504
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2826537
ClinVar RCV Id:
RCV003604397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376559.1:p.Tyr348Asp
CA380169178
NM_001389630.1:c.1042T>G