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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:
CA2697644826
Gene: PACERR
HGNC
NCBI
Linked Data
dbSNP Id:
rs2102008837
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681089_186681090insAC , CM000663.2:g.186681089_186681090insAC
GRCh38
NC_000001.10:g.186650221_186650222insAC , CM000663.1:g.186650221_186650222insAC
GRCh37
NC_000001.9:g.184916844_184916845insAC
NCBI36
NG_028206.2:g.4338_4339insGT
Transcript Alleles
HGVS
Amino-acid change
NR_125801.1:n.436_437insAC
Search 100 bp 5'
Search 100 bp 3'