ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830323984
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000078095
RCV000201145
RCV001804832
RCV002504988
RCV003474674
ClinVar Variation:
92414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775111.1:p.Ala286Glu
CA220348
NM_173088.2:c.857C>A