ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916004162
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426363
ClinVar RCV Id:
RCV000554558
RCV000489345
RCV001822859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Pro197Ser
CA3389726
NM_001202404.2:c.589C>T