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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:
PA645434891
Gene: COL4A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255023
ClinVar RCV Id:
RCV000241593
RCV000364192
RCV000885126
RCV001089932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000083.3:p.Arg877Gln
CA2144755
NM_000092.5:c.2630G>A