ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1250829279
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.52722264A= , CM000664.2:g.52722264A=
GRCh38
NC_000002.11:g.52949402A= , CM000664.1:g.52949402A=
GRCh37
NC_000002.10:g.52802906A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959384.1:n.993T=
Search 100 bp 5'
Search 100 bp 3'