ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916065791
Gene: CAPN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000408097
RCV001086033
ClinVar Variation:
287449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775110.1:p.Pro78Thr
CA7510874
NM_173087.2:c.232C>A