ClinGen Allele Registry
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Canonical Allele Identifier:
CA847889003
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr8:g.134857733A>T
GRCh37
chr8:g.135869976A>T
Linked Data - NCBI & NCI
dbSNP:
12541063
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.134857733A>T , CM000670.2:g.134857733A>T
GRCh38
NC_000008.10:g.135869976A>T , CM000670.1:g.135869976A>T
GRCh37
NC_000008.9:g.135939158A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125427.1:n.1696+6103A>T
Search 100 bp 5'
Search 100 bp 3'