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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:
PA102688
Gene: GFAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66441
ClinVar RCV Id:
RCV000056835
RCV000192176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002046.1:p.Glu374Gly
CA217120
NM_002055.5:c.1121A>G