ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103437
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236185
RCV000544728
RCV000790269
RCV001027460
RCV002265708
RCV002272190
RCV002429143
ClinVar Variation:
245627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Leu361Pro
CA6153517
NM_002180.3:c.1082T>C