ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826138451
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547989
ClinVar RCV Id:
RCV000660595
RCV001104529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Val340Asp
CA5955078
NM_001178083.2:c.1019T>A