ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA255087099
Gene:
Linked Data
dbSNP Id:
rs553244624
gnomAD v3:
13-94853071-T-C
gnomAD v4:
13-94853071-T-C
MyVariant Identifiers:
chr13:g.95505325T>C (hg19)
chr13:g.94853071T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.94853071T>C , CM000675.2:g.94853071T>C
GRCh38
NC_000013.10:g.95505325T>C , CM000675.1:g.95505325T>C
GRCh37
NC_000013.9:g.94303326T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110754.1:n.257-52393T>C
Search 100 bp 5'
Search 100 bp 3'