ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1468682178
Gene:
Linked Data
dbSNP Id:
rs1578880350
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74554111T>C , CM000666.2:g.74554111T>C
GRCh38
NC_000004.11:g.75419828T>C , CM000666.1:g.75419828T>C
GRCh37
NC_000004.10:g.75638692T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.167-1279A>G
Search 100 bp 5'
Search 100 bp 3'