ClinGen Allele Registry
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Canonical Allele Identifier:
CA882371992
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.41648308T>G
Linked Data - NCBI & NCI
dbSNP:
2109075
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.41648308T>G , CM000681.2:g.41648308T>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_935972.1:n.170+3194A>C
Search 100 bp 5'
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