ClinGen Allele Registry
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Canonical Allele Identifier:
CA561890103
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.112707468T>G
GRCh37
chr5:g.112043165T>G
Linked Data - Sequence & Population
gnomAD v2:
5:112043165 T / G
gnomAD v4:
chr5-112707468-T-G
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002465744
RCV003538578
ClinVar Variation:
537651
dbSNP:
538243333
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.112707468T>G , CM000667.2:g.112707468T>G
GRCh38
NC_000005.9:g.112043165T>G , CM000667.1:g.112043165T>G
GRCh37
NC_000005.8:g.112071064T>G
NCBI36
NG_008481.4:g.19948T>G , LRG_130:g.19948T>G
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