ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675289
Gene: IGHMBP2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002171.2:p.Glu816Gln
NM_002180.3:c.2446G>C