ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA649341288
Gene:
Linked Data
COSMIC:
COSN6805859
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748378C>A , CM000666.2:g.148748378C>A
GRCh38
NC_000004.11:g.149669530C>A , CM000666.1:g.149669530C>A
GRCh37
NC_000004.10:g.149888980C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741441.1:n.1746-118379C>A
Search 100 bp 5'
Search 100 bp 3'