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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:
PA102286
Gene: GFAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66502
ClinVar RCV Id:
RCV000056905
RCV000192141
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002046.1:p.Ala253Gly
CA217217
NM_002055.5:c.758C>G