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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:
PA645412535
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
404954
ClinVar RCV Id:
RCV000472229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Thr33172Asn
CA16610290
NM_001267550.2:c.99515C>A