ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338016
Gene: LITAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215840
ClinVar RCV Id:
RCV000198589
RCV000789999
RCV001705150
RCV002390528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129945.1:p.Thr49Met
CA338014
NM_001136473.1:c.146C>T