ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483203
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234714
ClinVar RCV Id:
RCV000222500
RCV000296226
RCV000792933
RCV002444872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Arg286Gln
CA6153412
NM_002180.3:c.857G>A