ClinGen Allele Registry
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Canonical Allele Identifier:
PA916071326
Gene: GAMT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000353046
RCV001726120
RCV001850747
ClinVar Variation:
328347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620279.1:p.Ser140Leu
CA9043666
NM_138924.3:c.419C>T