ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645414492
Gene: GLDC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
254211
ClinVar RCV Id:
RCV000284142
RCV000491317
RCV001565401
RCV002518556
RCV003479081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000161.2:p.Pro647Leu
CA4980455
NM_000170.3:c.1940C>T