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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:
PA1139669476
Gene: GLA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
922724
ClinVar RCV Id:
RCV001182914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000160.1:p.Phe159Val
CA413929367
NM_000169.3:c.475T>G