ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174575
Gene: CAPN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161673
ClinVar RCV Id:
RCV000149209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055104.2:p.Arg586Gln
CA174574
NM_014289.4:c.1757G>A