ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483283
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
245631
ClinVar RCV Id:
RCV000532649
RCV000726111
RCV001109737
RCV002429144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Val726Met
CA6153850
NM_002180.3:c.2176G>A