ClinGen Allele Registry
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Canonical Allele Identifier:
CA2270150088
Community Standard Title: NC_000017.11:g.63918895A=
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.63918895A= , CM000679.2:g.63918895A=
GRCh38
NC_000017.10:g.61996255A= , CM000679.1:g.61996255A=
GRCh37
NC_000017.9:g.59349987A=
NCBI36
NG_011676.1:g.4944T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000647774.1:c.289-389T=
Search 100 bp 5'
Search 100 bp 3'