ClinGen Allele Registry
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Canonical Allele Identifier:
CA1821941773
Gene:
Linked Data - NCBI & NCI
dbSNP:
4909801
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.134866916T>G , CM000670.2:g.134866916T>G
GRCh38
NC_000008.10:g.135879159T>G , CM000670.1:g.135879159T>G
GRCh37
NC_000008.9:g.135948341T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_125427.1:n.1697-14268T>G
Search 100 bp 5'
Search 100 bp 3'