ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256172
Gene: GLDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11989
ClinVar RCV Id:
RCV000012769
RCV000482511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000161.2:p.Ala389Val
CA256170
NM_000170.3:c.1166C>T