ClinGen Allele Registry
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Canonical Allele Identifier:
CA622339246
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.56960287G>A
GRCh37
chr16:g.56994199G>A
Linked Data - Sequence & Population
gnomAD v2:
16:56994199 G / A
gnomAD v3:
16:56960287 G / A
gnomAD v4:
chr16-56960287-G-A
Joint Max Group AF
0.00000488 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1373701258
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56960287G>A , CM000678.2:g.56960287G>A
GRCh38
NC_000016.9:g.56994199G>A , CM000678.1:g.56994199G>A
GRCh37
NC_000016.8:g.55551700G>A
NCBI36
NG_008952.1:g.3365G>A
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