ClinGen Allele Registry
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Canonical Allele Identifier:
CA582108579
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1391072183
gnomAD v2:
8-57360408-G-A
gnomAD v3:
8-56447849-G-A
gnomAD v4:
8-56447849-G-A
MyVariant Identifiers:
chr8:g.57360408G>A (hg19)
chr8:g.56447849G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56447849G>A , CM000670.2:g.56447849G>A
GRCh38
NC_000008.10:g.57360408G>A , CM000670.1:g.57360408G>A
GRCh37
NC_000008.9:g.57522962G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1349G>A
Search 100 bp 5'
Search 100 bp 3'