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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:
CA16579401
Gene: ISM1
HGNC
NCBI
TASP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1575248
gnomAD v2:
20-13296779-C-T
gnomAD v3:
20-13316132-C-T
gnomAD v4:
20-13316132-C-T
MyVariant Identifiers:
chr20:g.13296779C>T (hg19)
chr20:g.13316132C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.13316132C>T , CM000682.2:g.13316132C>T
GRCh38
NC_000020.10:g.13296779C>T , CM000682.1:g.13296779C>T
GRCh37
NC_000020.9:g.13244779C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_937280.1:n.601-77G>A
XM_017027680.1:c.878-8934C>T
(ISM1)
XP_016883169.1:n.878-8934C>T
XR_001754319.2:n.1282-77G>A
(TASP1)
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