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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:
PA2825206256
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1004843
ClinVar RCV Id:
RCV001301615
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg19Trp
CA393070716
NM_000520.6:c.55C>T