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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:
PA114917
Gene: SLC4A11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1314
ClinVar RCV Id:
RCV000001377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167560.1:p.Arg472Lys
CA114916
NM_001174089.2:c.1415G>A