ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741864479
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3023607
ClinVar RCV Id:
RCV003880702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339541.1:p.Val6Ala
CA388694769
NM_001352612.2:c.17T>C