ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826257593
Gene: ALDH7A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204848
ClinVar RCV Id:
RCV000186746
RCV000641165
RCV003230442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189333.2:p.Tyr370Cys
CA313203
NM_001202404.2:c.1109A>G