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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
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Canonical Allele Identifier:
CA1310513731
Gene: TTN-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178525962_178525963delinsAT , CM000664.2:g.178525962_178525963delinsAT
GRCh38
NC_000002.11:g.179390689_179390690delinsAT , CM000664.1:g.179390689_179390690delinsAT
GRCh37
NC_000002.10:g.179098935_179098936delinsAT
NCBI36
NG_011618.3:g.309840_309841delinsAT , LRG_391:g.309840_309841delinsAT
NG_051363.1:g.8136_8137delinsAT
Transcript Alleles
HGVS
Amino-acid change
NR_038271.1:n.446+2326_446+2327delinsAT
NR_038272.1:n.219+2326_219+2327delinsAT
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