ClinGen Allele Registry
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Canonical Allele Identifier:
CA249517030
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.43900381G>T
Linked Data - NCBI & NCI
dbSNP:
8002861
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.43900381G>T , CM000675.2:g.43900381G>T
GRCh38
NC_000013.10:g.44474517G>T , CM000675.1:g.44474517G>T
GRCh37
NC_000013.9:g.43372517G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000627615.1:c.757-6499G>T
Search 100 bp 5'
Search 100 bp 3'