ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139709843
Gene: IGHMBP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917016
ClinVar RCV Id:
RCV001173343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002171.2:p.Glu483Val
CA381649776
NM_002180.3:c.1448A>T