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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:
PA2826298034
Gene: GFAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66484
ClinVar RCV Id:
RCV000056885
RCV000192126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229305.1:p.Asp128Asn
CA217191
NM_001242376.3:c.382G>A