ClinGen Allele Registry
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Canonical Allele Identifier:
CA1618489518
Gene:
Linked Data
dbSNP:
9259013
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29874690T>G , CM000668.2:g.29874690T>G
GRCh38
NC_000006.11:g.29842467T>G , CM000668.1:g.29842467T>G
GRCh37
NC_000006.10:g.29950446T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647952.1:n.2062+8864A>C
Search 100 bp 5'
Search 100 bp 3'