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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:
CA652783038
Gene: PRNCR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1813772819
gnomAD v3:
8-127091915-CTTGT-C
gnomAD v4:
8-127091915-CTTGT-C
COSMIC:
COSN26282245
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127091922_127091925del , CM000670.2:g.127091922_127091925del
GRCh38
NC_000008.10:g.128104167_128104170del , CM000670.1:g.128104167_128104170del
GRCh37
NC_000008.9:g.128173349_128173352del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.12049_12052del
Search 100 bp 5'
Search 100 bp 3'