ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645434974
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429410
ClinVar RCV Id:
RCV000493022
RCV001083571
RCV003330725
RCV003972818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000273.2:p.Ser520Cys
CA7033719
NM_000282.4:c.1558A>T