ClinGen Allele Registry
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Canonical Allele Identifier:
PA916015250
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_001273307.1:p.Arg77His
CA1223590
NM_001286378.2:c.230G>A