ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573220339
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1507340
ClinVar RCV Id:
RCV002048052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Ser287Asn
CA223392487
NM_002180.3:c.860G>A