ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1898741372
Gene:
Linked Data
dbSNP Id:
rs762512617
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.29075798C>G , CM000672.2:g.29075798C>G
GRCh38
NC_000010.10:g.29364727C>G , CM000672.1:g.29364727C>G
GRCh37
NC_000010.9:g.29404733C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001747284.1:n.127-3694C>G
Search 100 bp 5'
Search 100 bp 3'