ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829183481
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2058684
ClinVar RCV Id:
RCV002952405
RCV002952404
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001376559.1:p.Val330Ile
CA380168890
NM_001389630.1:c.988G>A