ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580131861
Gene: LAT
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003013120
ClinVar Variation:
2090473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014989.2:p.Ser76Phe
CA7989833
NM_001014989.2:c.227C>T