Allele Registry

Canonical Allele Identifier: PA2825792008

Gene: TCOF1 HGNC NCBI

ClinVar RCV:

RCV000118615

RCV001521229

RCV001640100

ClinVar Variation:

130574

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128717.1:p.Ala1314Val	CA155689 NM_001135245.2:c.3941C>T