ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1427629935
Gene:
Linked Data
dbSNP Id:
rs1715478309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931594A>G , CM000665.2:g.187931594A>G
GRCh38
NC_000003.11:g.187649382A>G , CM000665.1:g.187649382A>G
GRCh37
NC_000003.10:g.189132076A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1320T>C
Search 100 bp 5'
Search 100 bp 3'