ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323238
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000595213
RCV000726807
RCV000762951
RCV002298702
RCV003222054
ClinVar Variation:
498267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Arg29Trp
CA7511448
NM_173088.2:c.85C>T