Canonical Allele Identifier: CA2530019112
Gene: PTCSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852745G>A , CM000671.2:g.97852745G>A GRCh38
NC_000009.11:g.100615027G>A , CM000671.1:g.100615027G>A GRCh37
NC_000009.10:g.99654848G>A NCBI36
NG_011979.1:g.4491G>A

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+131C>T
XR_930159.1:n.218+131C>T
XR_930160.1:n.218+131C>T
XR_930161.1:n.218+131C>T
NR_147055.1:n.165+171C>T
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