ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483241
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000733040
RCV001081674
RCV001172569
RCV002404302
ClinVar Variation:
432239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ile535Val
CA6153713
NM_002180.3:c.1603A>G