ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483289
Gene: IGHMBP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000348006
RCV000514865
RCV001082293
RCV001173331
RCV002450728
ClinVar Variation:
245872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Pro787Leu
CA6153889
NM_002180.3:c.2360C>T