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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:
CA2678137609
Gene: TSBP1-AS1
HGNC
NCBI
Linked Data
gnomAD v4:
6-32255430-CCG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32255432_32255433del , CM000668.2:g.32255432_32255433del
GRCh38
NC_000006.11:g.32223209_32223210del , CM000668.1:g.32223209_32223210del
GRCh37
NC_000006.10:g.32331187_32331188del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_136244.1:n.242+18_242+19del
NR_136245.1:n.242+18_242+19del
NR_136246.1:n.242+18_242+19del
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