ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278127
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12024
ClinVar RCV Id:
RCV000012804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121164.1:p.Met347Lys
CA278126
NM_001127692.3:c.1040T>A