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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:
PA094471
Gene: SLC4A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17770
ClinVar RCV Id:
RCV000019347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Thr837Ala
CA127395
NM_000342.4:c.2509A>G