Canonical Allele Identifier: PA2573258022
Gene: TRPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506027
ClinVar RCV Id: RCV002035894
ClinVar Variation Id: 2139558
ClinVar RCV Id: RCV003052657

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_054831.2:p.Met1242Leu
CA4851452
NM_014112.4:c.3724A>C
CA4851453
NM_014112.4:c.3724A>T