ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483176
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000390927
RCV000534317
RCV001111836
RCV001174199
RCV001718585
RCV002450825
RCV004549602
ClinVar Variation:
287979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Thr115Met
CA6153266
NM_002180.3:c.344C>T