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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:
PA2741996061
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2862472
ClinVar RCV Id:
RCV003699848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly536Ser
CA413845233
NM_033380.3:c.1606G>A