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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:
CA1588740024
Gene: PRELID2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1753149906
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.145585892dup , CM000667.2:g.145585892dup
GRCh38
NC_000005.9:g.144965455dup , CM000667.1:g.144965455dup
GRCh37
NC_000005.8:g.144945648dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000510259.5:n.71-112574dup
XR_944308.1:n.662+179042dup
Search 100 bp 5'
Search 100 bp 3'