ClinGen Allele Registry
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Canonical Allele Identifier:
CA838002988
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.35361837T>A
GRCh37
chr7:g.35401447T>A
Linked Data - NCBI & NCI
dbSNP:
2392362
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.35361837T>A , CM000669.2:g.35361837T>A
GRCh38
NC_000007.13:g.35401447T>A , CM000669.1:g.35401447T>A
GRCh37
NC_000007.12:g.35367972T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_038864.1:n.187+9446T>A
Search 100 bp 5'
Search 100 bp 3'