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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:
PA256525
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12658
ClinVar RCV Id:
RCV000013494
RCV000733710
RCV001089351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ser4609Asn
CA256521
NM_133437.4:c.13826G>A