ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240300
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194369
ClinVar RCV Id:
RCV000724757
RCV000702785
RCV001173571
RCV002453610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Pro873Leu
CA240298
NM_002180.3:c.2618C>T