ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1786026913
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1804700133
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56447852C>T , CM000670.2:g.56447852C>T
GRCh38
NC_000008.10:g.57360411C>T , CM000670.1:g.57360411C>T
GRCh37
NC_000008.9:g.57522965C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1352C>T
Search 100 bp 5'
Search 100 bp 3'