ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830290037
Gene: SHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_683718.1:p.Leu435Phe
CA170988
NM_148918.3:c.1303C>T