ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1468682187
Gene:
Linked Data
dbSNP Id:
rs1721063798
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74554129A>G , CM000666.2:g.74554129A>G
GRCh38
NC_000004.11:g.75419846A>G , CM000666.1:g.75419846A>G
GRCh37
NC_000004.10:g.75638710A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-1297T>C
Search 100 bp 5'
Search 100 bp 3'