Canonical Allele Identifier: PA645472872
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 374341
ClinVar RCV Id: RCV000414824

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060579.3:p.Val490Leu
CA16043676
NM_018109.3:c.1468G>T
CA376434705
NM_018109.3:c.1468G>C