ClinGen Allele Registry
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Canonical Allele Identifier:
CA15823076
Gene:
Linked Data
dbSNP Id:
rs227869
gnomAD v2:
14-22956710-G-A
gnomAD v3:
14-22487722-G-A
gnomAD v4:
14-22487722-G-A
MyVariant Identifiers:
chr14:g.22956710G>A (hg19)
chr14:g.22487722G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22487722G>A , CM000676.2:g.22487722G>A
GRCh38
NC_000014.8:g.22956710G>A , CM000676.1:g.22956710G>A
GRCh37
NC_000014.7:g.22026550G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001750629.1:n.292-22436C>T
Search 100 bp 5'
Search 100 bp 3'