ClinGen Allele Registry
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Canonical Allele Identifier:
CA315838306
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.47796832G>C
GRCh37
chr20:g.46425576G>C
Linked Data - Sequence & Population
gnomAD v3:
20:47796832 G / C
gnomAD v4:
chr20-47796832-G-C
Linked Data - NCBI & NCI
dbSNP:
13038095
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.47796832G>C , CM000682.2:g.47796832G>C
GRCh38
NC_000020.10:g.46425576G>C , CM000682.1:g.46425576G>C
GRCh37
NC_000020.9:g.45858983G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754648.2:n.224-1625G>C
Search 100 bp 5'
Search 100 bp 3'