ClinGen Allele Registry
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Canonical Allele Identifier:
CA681928545
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr11:g.92917836C>T
GRCh37
chr11:g.92651002C>T
Linked Data - NCBI & NCI
dbSNP:
7950811
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.92917836C>T , CM000673.2:g.92917836C>T
GRCh38
NC_000011.9:g.92651002C>T , CM000673.1:g.92651002C>T
GRCh37
NC_000011.8:g.92290650C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000634657.1:n.81+1872C>T
Search 100 bp 5'
Search 100 bp 3'