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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:
CA1310513717
Gene: TTN-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178525949_178525950delinsTC , CM000664.2:g.178525949_178525950delinsTC
GRCh38
NC_000002.11:g.179390676_179390677delinsTC , CM000664.1:g.179390676_179390677delinsTC
GRCh37
NC_000002.10:g.179098922_179098923delinsTC
NCBI36
NG_011618.3:g.309853_309854delinsGA , LRG_391:g.309853_309854delinsGA
NG_051363.1:g.8123_8124delinsTC
Transcript Alleles
HGVS
Amino-acid change
NR_038271.1:n.446+2313_446+2314delinsTC
NR_038272.1:n.219+2313_219+2314delinsTC
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