ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825654125
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_001121164.1:p.Ser494Cys
CA7033719
NM_001127692.3:c.1480A>T