ClinGen Allele Registry
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Canonical Allele Identifier:
CA1646927511
Gene:
Linked Data
dbSNP Id:
rs16870040
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.92592553A>T , CM000668.2:g.92592553A>T
GRCh38
NC_000006.11:g.93302271A>T , CM000668.1:g.93302271A>T
GRCh37
NC_000006.10:g.93358992A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_942786.2:n.3780T>A
Search 100 bp 5'
Search 100 bp 3'