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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:
PA2829437849
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165851
ClinVar RCV Id:
RCV000152222
RCV000643884
RCV000184785
RCV000617839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Gly14805Ser
CA178519
NM_003319.4:c.44413G>A