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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:
CA2529071250
Gene: PRNCR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127091669_127091670insC , CM000670.2:g.127091669_127091670insC
GRCh38
NC_000008.10:g.128103914_128103915insC , CM000670.1:g.128103914_128103915insC
GRCh37
NC_000008.9:g.128173096_128173097insC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.11796_11797insC
Search 100 bp 5'
Search 100 bp 3'