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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:
CA1310513718
Gene: TTN-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1686255936
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178525953del , CM000664.2:g.178525953del
GRCh38
NC_000002.11:g.179390680del , CM000664.1:g.179390680del
GRCh37
NC_000002.10:g.179098926del
NCBI36
NG_011618.3:g.309853del , LRG_391:g.309853del
NG_051363.1:g.8127del
Transcript Alleles
HGVS
Amino-acid change
NR_038271.1:n.446+2317del
NR_038272.1:n.219+2317del
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