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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:
PA2580189011
Gene: SLC35A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1919471
ClinVar RCV Id:
RCV002594837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269580.1:p.Asp349Gly
CA412894632
NM_001282651.2:c.1046A>G