ClinGen Allele Registry
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Canonical Allele Identifier:
CA2773573437
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151633497T>C , CM000668.2:g.151633497T>C
GRCh38
NC_000006.11:g.151954632T>C , CM000668.1:g.151954632T>C
GRCh37
NC_000006.10:g.151996325T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_943115.1:n.2496+3515T>C
Search 100 bp 5'
Search 100 bp 3'