ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139732277
Gene: SNRNP200
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054733.2:p.Leu488Phe
CA347682671
NM_014014.5:c.1462C>T