ClinGen Allele Registry
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Canonical Allele Identifier:
CA1250829388
Gene:
Linked Data
dbSNP Id:
rs1668657195
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.52722438G>C , CM000664.2:g.52722438G>C
GRCh38
NC_000002.11:g.52949576G>C , CM000664.1:g.52949576G>C
GRCh37
NC_000002.10:g.52803080G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959384.1:n.819C>G
Search 100 bp 5'
Search 100 bp 3'