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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:
PA099714
Gene: GLA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10729
ClinVar RCV Id:
RCV000011476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000160.1:p.Cys202Trp
CA021821
NM_000169.3:c.606T>G