ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993257
Gene: MAN2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166969.1:p.Ala250Ser
CA9226726
NM_001173498.2:c.748G>T