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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:
PA2580168854
Gene: SLC37A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2084912
ClinVar RCV Id:
RCV003011384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157750.1:p.Asn396Ser
CA382895049
NM_001164278.2:c.1187A>G