ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645424349
Gene: CATSPER2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742093.1:p.Trp307Ser
CA7528754
NM_172095.2:c.920G>C