ClinGen Allele Registry
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Canonical Allele Identifier:
PA645483291
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245632
ClinVar RCV Id:
RCV000235815
RCV000547188
RCV001110520
RCV002444933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Arg790Gln
CA6153897
NM_002180.3:c.2369G>A