ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2493232066
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.20485641A= , CM000664.2:g.20485641A=
GRCh38
NC_000002.11:g.20685402A= , CM000664.1:g.20685402A=
GRCh37
NC_000002.10:g.20548883A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_157978.1:n.530+3097T=
Search 100 bp 5'
Search 100 bp 3'