ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813878
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
506812
ClinVar RCV Id:
RCV000612991
RCV001224658
RCV003133395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ala890Thr
CA6153980
NM_002180.3:c.2668G>A