Canonical Allele Identifier: CA2515009212
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40373566G>T , CM000674.2:g.40373566G>T GRCh38
NC_000012.11:g.40767368G>T , CM000674.1:g.40767368G>T GRCh37
NC_000012.10:g.39053635G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_944868.1:n.485-18739C>A
XR_944869.1:n.485-1514C>A
XR_001749087.1:n.380-1514C>A
XR_001749088.1:n.347-1514C>A
XR_944868.2:n.485-18739C>A
XR_944869.2:n.485-1514C>A
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