ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829007772
Gene: CPNE6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2269637
ClinVar RCV Id:
RCV004125414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371986.1:p.Asn317Ser
CA389264373
NM_001385057.1:c.950A>G