Canonical Allele Identifier: CA2785233624
Gene: PTCSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852368G>A , CM000671.2:g.97852368G>A GRCh38
NC_000009.11:g.100614650G>A , CM000671.1:g.100614650G>A GRCh37
NC_000009.10:g.99654471G>A NCBI36
NG_011979.1:g.4114G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+508C>T
XR_930159.1:n.218+508C>T
XR_930160.1:n.218+508C>T
XR_930161.1:n.218+508C>T
NR_147055.1:n.165+548C>T
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