ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103560
Gene: PCCB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12016
ClinVar RCV Id:
RCV000012796
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000523.2:p.Thr428Ile
CA341174
NM_000532.5:c.1283C>T