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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:
CA2564547718
Gene: PRNCR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127091624del , CM000670.2:g.127091624del
GRCh38
NC_000008.10:g.128103869del , CM000670.1:g.128103869del
GRCh37
NC_000008.9:g.128173051del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.11751del
Search 100 bp 5'
Search 100 bp 3'