ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741853208
Gene:
Linked Data
ClinVar RCV:
RCV003959542
ClinVar Variation:
3051583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280100.1:p.Leu81Phe
CA5817156
NM_001293171.2:c.241C>T