ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA159130
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134207
ClinVar RCV Id:
RCV000120880
RCV000514384
RCV001086119
RCV003315753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000392.3:p.Met75Val
CA159126
NM_000401.3:c.223A>G