ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2491420634
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.16534140A= , CM000664.2:g.16534140A=
GRCh38
NC_000002.11:g.16715408A= , CM000664.1:g.16715408A=
GRCh37
NC_000002.10:g.16578889A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_939754.1:n.61-4242A=
Search 100 bp 5'
Search 100 bp 3'