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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:
PA2829443761
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_003310.4:p.Thr24107Asn
CA16610290
NM_003319.4:c.72320C>A