ClinGen Allele Registry
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Canonical Allele Identifier:
PA103388
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000664227
RCV001095539
RCV003488333
RCV003764541
ClinVar Variation:
9113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.His213Arg
CA254644
NM_002180.3:c.638A>G