ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826253167
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204835
ClinVar RCV Id:
RCV000186731
RCV000678776
RCV002415800
RCV000641168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Thr40Asn
CA313177
NM_001201377.2:c.119C>A