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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:
CA1818225117
Gene: PRNCR1
HGNC
NCBI
PCAT2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1813581976
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127080078_127080079dup , CM000670.2:g.127080078_127080079dup
GRCh38
NC_000008.10:g.128092323_128092324dup , CM000670.1:g.128092323_128092324dup
GRCh37
NC_000008.9:g.128161505_128161506dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109833.1:n.205_206dup
(PRNCR1)
NR_119373.1:n.102-946_102-945dup
(PCAT2)
Search 100 bp 5'
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