ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827663385
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_001339534.1:p.Met373Lys
CA278126
NM_001352605.2:c.1118T>A