ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580424841
Gene: CATSPERG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067008.3:p.Ser236Leu
CA405636960
NM_021185.5:c.707C>T