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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:
CA1213245933
Gene: PACERR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1665873222
gnomAD v3:
1-186681063-TTGTGGAATGAAATAGCTACCTTCAGTG-T
gnomAD v4:
1-186681063-TTGTGGAATGAAATAGCTACCTTCAGTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681065_186681091del , CM000663.2:g.186681065_186681091del
GRCh38
NC_000001.10:g.186650197_186650223del , CM000663.1:g.186650197_186650223del
GRCh37
NC_000001.9:g.184916820_184916846del
NCBI36
NG_028206.2:g.4338_4364del
Transcript Alleles
HGVS
Amino-acid Change
NR_125801.1:n.412_438del
Search 100 bp 5'
Search 100 bp 3'