ClinGen Allele Registry
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Canonical Allele Identifier:
CA1573933636
Gene:
Linked Data
dbSNP Id:
rs1780061901
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.113660882G>C , CM000667.2:g.113660882G>C
GRCh38
NC_000005.9:g.112996579G>C , CM000667.1:g.112996579G>C
GRCh37
NC_000005.8:g.113024478G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742841.1:n.59+27518G>C
Search 100 bp 5'
Search 100 bp 3'