ClinGen Allele Registry
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Canonical Allele Identifier:
CA1728106756
Gene:
Linked Data
dbSNP Id:
rs1584306102
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388536C>T , CM000669.2:g.97388536C>T
GRCh38
NC_000007.13:g.97017848C>T , CM000669.1:g.97017848C>T
GRCh37
NC_000007.12:g.96855784C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59889G>A
Search 100 bp 5'
Search 100 bp 3'