ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829577559
Gene: ITM2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3111673
ClinVar RCV Id:
RCV004398533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004858.1:p.Arg229His
CA10460966
NM_004867.5:c.686G>A