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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:
CA177704322
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs758348621
MyVariant Identifiers:
chr8:g.57360568_57360569insG (hg19)
chr8:g.56448009_56448010insG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56448012dup , CM000670.2:g.56448012dup
GRCh38
NC_000008.10:g.57360571dup , CM000670.1:g.57360571dup
GRCh37
NC_000008.9:g.57523125dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1512dup
Search 100 bp 5'
Search 100 bp 3'