Canonical Allele Identifier: CA2762952393
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542552A>T , CM000666.2:g.105542552A>T GRCh38
NC_000004.11:g.106463709A>T , CM000666.1:g.106463709A>T GRCh37
NC_000004.10:g.106683158A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.453T>A
XR_939039.1:n.613T>A
XR_939040.1:n.296-1076T>A
XR_001741410.1:n.468T>A
XR_001741411.1:n.944T>A
XR_001741412.1:n.449+19T>A
XR_001741413.1:n.468T>A
XR_001741414.1:n.449+19T>A
XR_939038.2:n.468T>A
XR_939040.2:n.311-1076T>A
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