ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA283048115
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr16:g.62066307T>C
GRCh37
chr16:g.62100211T>C
Linked Data - Sequence & Population
gnomAD v2:
16:62100211 T / C
gnomAD v3:
16:62066307 T / C
gnomAD v4:
chr16-62066307-T-C
Joint Max Group AF
0.27032291 (AFR)
Genomes Max Group AF
0.27032291 (AFR)
Linked Data - NCBI & NCI
dbSNP:
8050940
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.62066307T>C , CM000678.2:g.62066307T>C
GRCh38
NC_000016.9:g.62100211T>C , CM000678.1:g.62100211T>C
GRCh37
NC_000016.8:g.60657712T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'