ClinGen Allele Registry
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Canonical Allele Identifier:
CA260537798
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.54835501G>A
GRCh37
chr14:g.55302219G>A
Linked Data - Sequence & Population
gnomAD v2:
14:55302219 G / A
gnomAD v3:
14:54835501 G / A
gnomAD v4:
chr14-54835501-G-A
Joint Max Group AF
0.12291596 (NFE)
Genomes Max Group AF
0.12291596 (NFE)
Linked Data - NCBI & NCI
dbSNP:
17738966
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54835501G>A , CM000676.2:g.54835501G>A
GRCh38
NC_000014.8:g.55302219G>A , CM000676.1:g.55302219G>A
GRCh37
NC_000014.7:g.54371969G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'