Allele Registry

Canonical Allele Identifier: PA170989

Gene: SHMT1 HGNC NCBI

ClinVar RCV:

RCV000144920

ClinVar Variation:

157592

HGVS (amino-acid)	Matching Registered Transcripts
NP_004160.3:p.Leu474Phe	CA170988 NM_004169.5:c.1420C>T