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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:
CA846958641
Gene: LINC02964
HGNC
NCBI
Linked Data
dbSNP Id:
rs1381672128
MyVariant Identifiers:
chr8:g.126540116_126540117insC (hg19)
chr8:g.125527874_125527875insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125527875dup , CM000670.2:g.125527875dup
GRCh38
NC_000008.10:g.126540117dup , CM000670.1:g.126540117dup
GRCh37
NC_000008.9:g.126609299dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_928628.1:n.256+54561dup
XR_001746072.1:n.583+4862dup
XR_001746073.1:n.583+4862dup
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