ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826131690
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2415552
ClinVar RCV Id:
RCV003104764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171475.1:p.Asp388Asn
CA388695300
NM_001178004.2:c.1162G>A