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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:
PA2825234085
Gene: AGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526602
ClinVar RCV Id:
RCV000631163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000637.2:p.Ile1188Thr
CA27541303
NM_000646.2:c.3563T>C