ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580500977
Gene: NSMCE3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2130592
ClinVar RCV Id:
RCV003044613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619649.1:p.Glu146Gln
CA391484242
NM_138704.4:c.436G>C