ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499260566
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052279
ClinVar RCV Id:
RCV001360430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Arg595Trp
CA6153777
NM_002180.3:c.1783C>T