ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312223
Gene: ACADS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203557
ClinVar RCV Id:
RCV000185690
RCV000762888
RCV002252029
RCV004020248
ClinVar Variation Id:
203569
ClinVar RCV Id:
RCV000185708
RCV000984237
RCV003422082
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000008.1:p.Arg330Cys
CA312222
NM_000017.4:c.988C>T
CA312246
NM_000017.4:c.988_990delinsTGT