ClinGen Allele Registry
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Canonical Allele Identifier:
CA802223422
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.114513597C>A
GRCh37
chr5:g.113849294C>A
Linked Data - Sequence & Population
gnomAD v3:
5:114513597 C / A
gnomAD v4:
chr5-114513597-C-A
Linked Data - NCBI & NCI
dbSNP:
400028
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.114513597C>A , CM000667.2:g.114513597C>A
GRCh38
NC_000005.9:g.113849294C>A , CM000667.1:g.113849294C>A
GRCh37
NC_000005.8:g.113877193C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_130785.1:n.343-17419G>T
Search 100 bp 5'
Search 100 bp 3'