ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483229
Gene: IGHMBP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ala432Thr
CA6153595
NM_002180.3:c.1294G>A