ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2688538041
Gene: PRNCR1
HGNC
NCBI
Linked Data
gnomAD v4:
8-127092119-T-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127092119T>A , CM000670.2:g.127092119T>A
GRCh38
NC_000008.10:g.128104364T>A , CM000670.1:g.128104364T>A
GRCh37
NC_000008.9:g.128173546T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_109833.1:n.12246T>A
Search 100 bp 5'
Search 100 bp 3'