ClinGen Allele Registry
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Canonical Allele Identifier:
CA1114146183
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1804699909
gnomAD v3:
8-56447845-G-T
gnomAD v4:
8-56447845-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56447845G>T , CM000670.2:g.56447845G>T
GRCh38
NC_000008.10:g.57360404G>T , CM000670.1:g.57360404G>T
GRCh37
NC_000008.9:g.57522958G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1345G>T
Search 100 bp 5'
Search 100 bp 3'