ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827665919
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_001339539.1:p.Asp73Asn
CA388695300
NM_001352610.2:c.217G>A