ClinGen Allele Registry
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Canonical Allele Identifier:
CA2718230572
Gene:
Linked Data
dbSNP Id:
rs2130189307
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127012523T>C , CM000670.2:g.127012523T>C
GRCh38
NC_000008.10:g.128024768T>C , CM000670.1:g.128024768T>C
GRCh37
NC_000008.9:g.128093950T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746076.2:n.1364+5905T>C
Search 100 bp 5'
Search 100 bp 3'