ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1438624546
Gene:
Linked Data
dbSNP Id:
rs1713322215
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.11502010G>T , CM000666.2:g.11502010G>T
GRCh38
NC_000004.11:g.11503634G>T , CM000666.1:g.11503634G>T
GRCh37
NC_000004.10:g.11112732G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741361.1:n.950+19164G>T
Search 100 bp 5'
Search 100 bp 3'