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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:
PA095426
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10458
ClinVar RCV Id:
RCV000011204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly1143Asp
CA255260
NM_000495.4:c.3428G>A