ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825139147
Gene: PCCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2130507
ClinVar RCV Id:
RCV003052115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000273.2:p.Val376Ala
CA388695227
NM_000282.4:c.1127T>C