ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313152
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204821
ClinVar RCV Id:
RCV000186717
RCV000821146
RCV002408828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Ser341Asn
CA313151
NM_001182.5:c.1022G>A