ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1672979305
Gene:
Linked Data
dbSNP Id:
rs1777189108
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633753C>G , CM000668.2:g.151633753C>G
GRCh38
NC_000006.11:g.151954888C>G , CM000668.1:g.151954888C>G
GRCh37
NC_000006.10:g.151996581C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943115.1:n.2496+3771C>G
Search 100 bp 5'
Search 100 bp 3'