ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825068414
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
655963
ClinVar RCV Id:
RCV000812252
RCV001825626
RCV004526033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Pro104Leu
CA9043743
NM_000156.6:c.311C>T