ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827189457
Gene: ALDH18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213761
ClinVar RCV:
RCV000200956
RCV003389243
ClinVar Variation:
217116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310341.1:p.Val132Leu
CA347465
NM_001323412.2:c.394G>C