ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483236
Gene: IGHMBP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000498809
RCV000664228
RCV000856971
RCV001068853
RCV002248737
ClinVar Variation:
433162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ser508Leu
CA6153673
NM_002180.3:c.1523C>T