ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233047
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1007372
ClinVar RCV Id:
RCV001304549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000519.2:p.Ile596Asn
CA404244768
NM_000528.4:c.1787T>A