ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826138456
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134215
ClinVar RCV Id:
RCV000120888
RCV000763739
RCV000795903
RCV000766600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171554.1:p.Pro341Leu
CA159161
NM_001178083.2:c.1022C>T