ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483280
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246190
ClinVar RCV Id:
RCV000727325
RCV000819702
RCV002418044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Pro697Leu
CA6153835
NM_002180.3:c.2090C>T