ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114670
Gene: RS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000321.1:p.Pro193del
CA2580100392
NM_000330.3:c.577_579del