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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:
PA250438
Gene: SLC4A11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1306
ClinVar RCV Id:
RCV000001369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167560.1:p.Gly448Asp
CA250437
NM_001174089.2:c.1343G>A