ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1480021967
Gene:
Linked Data
dbSNP Id:
rs1722561352
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99474319C>G , CM000666.2:g.99474319C>G
GRCh38
NC_000004.11:g.100395476C>G , CM000666.1:g.100395476C>G
GRCh37
NC_000004.10:g.100614499C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000506494.1:n.242+2429G>C
Search 100 bp 5'
Search 100 bp 3'