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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:
PA2826298170
Gene: GFAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1382508
ClinVar RCV Id:
RCV001890343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229305.1:p.Met342Thr
CA399843920
NM_001242376.3:c.1025T>C