ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830100611
Gene: MAEL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
777103
ClinVar RCV Id:
RCV000957520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116247.1:p.Arg133His
CA1223590
NM_032858.3:c.398G>A