ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1320446095
Gene:
Linked Data
dbSNP Id:
rs1574264529
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033077C>T , CM000664.2:g.200033077C>T
GRCh38
NC_000002.11:g.200897800C>T , CM000664.1:g.200897800C>T
GRCh37
NC_000002.10:g.200606045C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_923778.1:n.178-22181G>A
Search 100 bp 5'
Search 100 bp 3'