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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:
CA1118964549
Gene: PRNCR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1813768492
gnomAD v3:
8-127091622-CAA-C
gnomAD v4:
8-127091622-CAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127091623_127091624del , CM000670.2:g.127091623_127091624del
GRCh38
NC_000008.10:g.128103868_128103869del , CM000670.1:g.128103868_128103869del
GRCh37
NC_000008.9:g.128173050_128173051del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.11750_11751del
Search 100 bp 5'
Search 100 bp 3'