ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2530697898
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485632C>T , CM000664.2:g.20485632C>T
GRCh38
NC_000002.11:g.20685393C>T , CM000664.1:g.20685393C>T
GRCh37
NC_000002.10:g.20548874C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+3106G>A
Search 100 bp 5'
Search 100 bp 3'