ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827663393
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194163
ClinVar RCV Id:
RCV000174464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339534.1:p.Gly379Val
CA240005
NM_001352605.2:c.1136G>T