ClinGen Allele Registry
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Canonical Allele Identifier:
PA645483314
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246570
ClinVar RCV Id:
RCV000236700
RCV000292250
RCV000556244
RCV001173347
RCV002436064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Arg946Gln
CA6154036
NM_002180.3:c.2837G>A