ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827664758
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92761
ClinVar RCV Id:
RCV000078547
RCV000313421
RCV001699197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339536.1:p.Ile449Val
CA145988
NM_001352607.2:c.1345A>G