ClinGen Allele Registry
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Canonical Allele Identifier:
CA1880834451
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576894T= , CM000671.2:g.129576894T=
GRCh38
NC_000009.11:g.132339173T= , CM000671.1:g.132339173T=
GRCh37
NC_000009.10:g.131378994T=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1296T=
Search 100 bp 5'
Search 100 bp 3'