ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916004094
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204834
ClinVar RCV Id:
RCV000186730
RCV001084645
RCV002415799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Thr67Met
CA313175
NM_001202404.2:c.200C>T