ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573220426
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1426154
ClinVar RCV Id:
RCV001929258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Thr493Ala
CA381649945
NM_002180.3:c.1477A>G