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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826093398
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451935
ClinVar RCV Id:
RCV001696924
RCV003915471
RCV000969160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166969.1:p.Glu607Lys
CA9226318
NM_001173498.2:c.1819G>A