ClinGen Allele Registry
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Canonical Allele Identifier:
CA257622076
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.22013585A>G
GRCh37
chr14:g.22481824A>G
Linked Data - Sequence & Population
gnomAD v3:
14:22013585 A / G
gnomAD v4:
chr14-22013585-A-G
Linked Data - NCBI & NCI
dbSNP:
3811321
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.22013585A>G , CM000676.2:g.22013585A>G
GRCh38
NC_000014.8:g.22481824A>G , CM000676.1:g.22481824A>G
GRCh37
NC_000014.7:g.21551664A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000553572.2:n.1676A>G
Search 100 bp 5'
Search 100 bp 3'