ClinGen Allele Registry
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Canonical Allele Identifier:
CA12763149
Gene: PENK-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2609997
gnomAD v2:
8-57360485-T-C
gnomAD v3:
8-56447926-T-C
gnomAD v4:
8-56447926-T-C
MyVariant Identifiers:
chr8:g.57360485T>C (hg19)
chr8:g.56447926T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.56447926T>C , CM000670.2:g.56447926T>C
GRCh38
NC_000008.10:g.57360485T>C , CM000670.1:g.57360485T>C
GRCh37
NC_000008.9:g.57523039T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_125813.1:n.694+1426T>C
Search 100 bp 5'
Search 100 bp 3'