ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483231
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245837
ClinVar RCV Id:
RCV000236000
RCV000763763
RCV002379045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ala432Val
CA6153597
NM_002180.3:c.1295C>T