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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:
CA1543249130
Gene: LINC02224
HGNC
NCBI
Linked Data
dbSNP Id:
rs1739807559
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.44662345_44662346del , CM000667.2:g.44662345_44662346del
GRCh38
NC_000005.9:g.44662447_44662448del , CM000667.1:g.44662447_44662448del
GRCh37
NC_000005.8:g.44698204_44698205del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_427699.2:n.92-3788_92-3787del
XR_925983.1:n.71-3788_71-3787del
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