ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA823755768
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.29874690T>C
GRCh37
chr6:g.29842467T>C
Linked Data - NCBI & NCI
dbSNP:
9259013
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.29874690T>C , CM000668.2:g.29874690T>C
GRCh38
NC_000006.11:g.29842467T>C , CM000668.1:g.29842467T>C
GRCh37
NC_000006.10:g.29950446T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647952.1:n.2062+8864A>G
Search 100 bp 5'
Search 100 bp 3'