ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA14119853
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.61708933A>C , CM000677.2:g.61708933A>C
GRCh38
NC_000015.9:g.62001132A>C , CM000677.1:g.62001132A>C
GRCh37
NC_000015.8:g.59788424A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001751569.1:n.77+6182T>G
Search 100 bp 5'
Search 100 bp 3'