ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312701
Gene: MCEE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203812
ClinVar RCV Id:
RCV000186009
RCV000203363
RCV000756325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115990.3:p.Lys60Gln
CA312700
NM_032601.4:c.178A>C