ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA159134
Gene: EXT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134208
ClinVar RCV Id:
RCV000120881
RCV001068751
RCV003925188
RCV003237723
ClinVar Variation Id:
943667
ClinVar RCV Id:
RCV001213904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997005.1:p.Met174Leu
CA159131
NM_207122.2:c.520A>C
CA5954907
NM_207122.2:c.520A>T