Canonical Allele Identifier: PA2828315490
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544153
ClinVar RCV Id: RCV000655213
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356186.1:p.Met792Ile
CA350439808
NM_001369257.1:c.2376G>A
CA350439809
NM_001369257.1:c.2376G>C
CA350439810
NM_001369257.1:c.2376G>T