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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:
PA915993812
Gene: SLC4A11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1311
ClinVar RCV Id:
RCV000001374
RCV001389004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167561.1:p.Arg896His
CA250444
NM_001174090.2:c.2687G>A