ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385162
Gene: EZR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435104
ClinVar RCV Id:
RCV000501798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003370.2:p.Thr533Met
CA4074866
NM_003379.5:c.1598C>T