ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313163
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204827
ClinVar RCV Id:
RCV000186723
RCV001043918
RCV002516977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Arg122Pro
CA313162
NM_001182.5:c.365G>C