ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825182039
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2186936
ClinVar RCV Id:
RCV002611218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000519.2:p.Ala250Val
CA9226725
NM_000528.4:c.749C>T