ClinGen Allele Registry
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Canonical Allele Identifier:
CA12812025
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs117501075
gnomAD v2:
8-57360341-C-T
gnomAD v3:
8-56447782-C-T
gnomAD v4:
8-56447782-C-T
MyVariant Identifiers:
chr8:g.57360341C>T (hg19)
chr8:g.56447782C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56447782C>T , CM000670.2:g.56447782C>T
GRCh38
NC_000008.10:g.57360341C>T , CM000670.1:g.57360341C>T
GRCh37
NC_000008.9:g.57522895C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125813.1:n.694+1282C>T
Search 100 bp 5'
Search 100 bp 3'