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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
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Canonical Allele Identifier:
CA1818225370
Gene: PRNCR1
HGNC
NCBI
PCAT2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127080317_127080321delinsGTTTA , CM000670.2:g.127080317_127080321delinsGTTTA
GRCh38
NC_000008.10:g.128092562_128092566delinsGTTTA , CM000670.1:g.128092562_128092566delinsGTTTA
GRCh37
NC_000008.9:g.128161744_128161748delinsGTTTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.444_448delinsGTTTA
(PRNCR1)
NR_119373.1:n.102-1188_102-1184delinsTAAAC
(PCAT2)
Search 100 bp 5'
Search 100 bp 3'