ClinGen Allele Registry
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Canonical Allele Identifier:
CA15904299
Gene: LINC00511
HGNC
NCBI
Linked Data
dbSNP Id:
rs11077614
gnomAD v2:
17-70594629-G-A
gnomAD v3:
17-72598490-G-A
gnomAD v4:
17-72598490-G-A
MyVariant Identifiers:
chr17:g.70594629G>A (hg19)
chr17:g.72598490G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.72598490G>A , CM000679.2:g.72598490G>A
GRCh38
NC_000017.10:g.70594629G>A , CM000679.1:g.70594629G>A
GRCh37
NC_000017.9:g.68106224G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_033876.1:n.1816C>T
Search 100 bp 5'
Search 100 bp 3'