ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246652
Gene: IGHMBP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000179404
RCV000525446
RCV002426859
ClinVar Variation:
198146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.His278Asp
CA246650
NM_002180.3:c.832C>G