ClinGen Allele Registry
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Canonical Allele Identifier:
CA2688538047
Gene: PRNCR1
HGNC
NCBI
Linked Data
gnomAD v4:
8-127092123-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127092123C>T , CM000670.2:g.127092123C>T
GRCh38
NC_000008.10:g.128104368C>T , CM000670.1:g.128104368C>T
GRCh37
NC_000008.9:g.128173550C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109833.1:n.12250C>T
Search 100 bp 5'
Search 100 bp 3'