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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:
PA181938
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178257
ClinVar RCV Id:
RCV000154998
RCV000172703
RCV000621842
RCV000852922
RCV001085765
RCV001798510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Val4012Met
CA181936
NM_133432.3:c.12034G>A