ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313212
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204852
ClinVar RCV Id:
RCV000186750
RCV000545498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Gly505Arg
CA313211
NM_001182.5:c.1513G>C