ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202265
Gene: ESCO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196298
ClinVar RCV Id:
RCV000177101
RCV000376034
RCV000902739
RCV001832012
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017420.1:p.Cys49Trp
CA202264
NM_001017420.3:c.147C>G