ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580458920
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2104729
ClinVar RCV Id:
RCV003041769
RCV003146735
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077320.1:p.Ser544Phe
CA392000280
NM_024344.1:c.1631C>T