ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710568
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917018
ClinVar RCV Id:
RCV001173349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ser850Gly
CA6153936
NM_002180.3:c.2548A>G