ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916071231
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205598
ClinVar RCV Id:
RCV000187583
RCV000815633
RCV001127428
RCV002317101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620279.1:p.Pro8Thr
CA314840
NM_138924.3:c.22C>A