ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170989
Gene: SHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004160.3:p.Leu474Phe
CA170988
NM_004169.5:c.1420C>T