ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256175
Gene: GLDC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27029
ClinVar RCV:
RCV000012770
RCV001659692
ClinVar Variation:
11990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000161.2:p.Arg739His
CA256173
NM_000170.3:c.2216G>A