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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:
CA1310513720
Gene: TTN-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1686257434
gnomAD v4:
2-178525953-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.178525953C>A , CM000664.2:g.178525953C>A
GRCh38
NC_000002.11:g.179390680C>A , CM000664.1:g.179390680C>A
GRCh37
NC_000002.10:g.179098926C>A
NCBI36
NG_011618.3:g.309850G>T , LRG_391:g.309850G>T
NG_051363.1:g.8127C>A
Transcript Alleles
HGVS
Amino-acid change
NR_038271.1:n.446+2317C>A
NR_038272.1:n.219+2317C>A
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