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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:
CA1588626992
Gene: PRELID2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1753411633
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.145353914dup , CM000667.2:g.145353914dup
GRCh38
NC_000005.9:g.144733477dup , CM000667.1:g.144733477dup
GRCh37
NC_000005.8:g.144713670dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_944308.1:n.795-15537dup
Search 100 bp 5'
Search 100 bp 3'