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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:
PA2830237007
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192151
ClinVar RCV Id:
RCV000172631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Asn17694Asp
CA238474
NM_133437.4:c.53080A>G