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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:
PA2825224808
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_000634.2:p.Ile1204Thr
CA27541303
NM_000643.2:c.3611T>C