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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:
CA1310513738
Gene: TTN-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1686268515
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178525974_178525977dup , CM000664.2:g.178525974_178525977dup
GRCh38
NC_000002.11:g.179390701_179390704dup , CM000664.1:g.179390701_179390704dup
GRCh37
NC_000002.10:g.179098947_179098950dup
NCBI36
NG_011618.3:g.309828_309831dup , LRG_391:g.309828_309831dup
NG_051363.1:g.8148_8151dup
Transcript Alleles
HGVS
Amino-acid change
NR_038271.1:n.446+2338_446+2341dup
NR_038272.1:n.219+2338_219+2341dup
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