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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:
PA178644
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
165933
ClinVar RCV Id:
RCV000152270
RCV000765563
RCV000474565
RCV000618262
RCV001704100
RCV003227676
RCV004532695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_596869.4:p.His17408Tyr