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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:
CA1310513732
Gene: TTN-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1686264697
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178525965del , CM000664.2:g.178525965del
GRCh38
NC_000002.11:g.179390692del , CM000664.1:g.179390692del
GRCh37
NC_000002.10:g.179098938del
NCBI36
NG_011618.3:g.309840del , LRG_391:g.309840del
NG_051363.1:g.8139del
Transcript Alleles
HGVS
Amino-acid change
NR_038271.1:n.446+2329del
NR_038272.1:n.219+2329del
Search 100 bp 5'
Search 100 bp 3'