ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA772779210
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50202995G>A
GRCh37
chr17:g.48280356G>A
Linked Data - Sequence & Population
gnomAD v3:
17:50202995 G / A
gnomAD v4:
chr17-50202995-G-A
Joint Max Group AF
0.00000802 (AFR)
Genomes Max Group AF
0.00000802 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2269336
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50202995G>A , CM000679.2:g.50202995G>A
GRCh38
NC_000017.10:g.48280356G>A , CM000679.1:g.48280356G>A
GRCh37
NC_000017.9:g.45635355G>A
NCBI36
NG_007400.1:g.3645C>T , LRG_1:g.3645C>T
Search 100 bp 5'
Search 100 bp 3'