ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742001927
Gene: CATSPER1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444282.3:p.Leu594Phe
CA381326419
NM_053054.4:c.1780C>T