ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826253463
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429577
ClinVar RCV Id:
RCV000494142
RCV001236631
RCV002318597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188306.1:p.Pro383Leu
CA3389477
NM_001201377.2:c.1148C>T