ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580127652
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2420131
ClinVar RCV Id:
RCV003118656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000519.2:p.Ala417Val
CA404247497
NM_000528.4:c.1250C>T