ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830322864
Gene: CAPN3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000410341
RCV000723527
RCV001824134
RCV002265720
RCV002288958
ClinVar Variation:
281081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Asp661Asn
CA7511784
NM_173087.2:c.1981G>A