ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825594378
Gene: SLC7A7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312818
ClinVar RCV Id:
RCV000326397
RCV002262977
RCV003969876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119577.1:p.Arg355Gln
CA7104499
NM_001126105.3:c.1064G>A