ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103566
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000535929
RCV000664209
RCV001813969
RCV003114179
ClinVar Variation:
9114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Val580Ile
CA254646
NM_002180.3:c.1738G>A