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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:
PA2825199140
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1455953
ClinVar RCV Id:
RCV001946755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly887Ser
CA413851677
NM_000495.4:c.2659G>A