ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827665485
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459937
ClinVar RCV Id:
RCV000525403
RCV001086663
RCV003915506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339537.1:p.Val599Leu
CA7033870
NM_001352608.2:c.1795G>C