ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103525
Gene: IGHMBP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000223974
RCV000240662
RCV000240667
RCV000693518
RCV000789340
RCV002390539
ClinVar Variation:
217450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Thr493Ile
CA6153653
NM_002180.3:c.1478C>T