ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916009500
Gene: SLC25A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42194
ClinVar RCV Id:
RCV000035018
RCV001801242
RCV001852702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243463.1:p.Arg289Cys
CA130979
NM_001256534.2:c.865C>T