ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827664827
Gene: PCCA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000236220
RCV000611609
RCV003401094
ClinVar Variation:
218258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339536.1:p.Trp533Leu
CA7033745
NM_001352607.2:c.1598G>T