ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499260555
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058330
ClinVar RCV Id:
RCV001367454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Val283Ile
CA381644481
NM_002180.3:c.847G>A