ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826597564
Gene: SHMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144920
ClinVar Variation:
157592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268715.1:p.Leu336Phe
CA170988
NM_001281786.2:c.1006C>T