ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580483923
Gene: MCEE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721139
ClinVar RCV Id:
RCV002294838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115990.3:p.Ile142Asn
CA347180699
NM_032601.4:c.425T>A