ClinGen Allele Registry
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Canonical Allele Identifier:
PA314787
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205569
ClinVar RCV Id:
RCV000655358
RCV001275200
RCV001704992
RCV002311267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Asp219Asn
CA314786
NM_000156.6:c.655G>A