ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994341
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_001171485.1:p.Thr448Ile
CA341174
NM_001178014.2:c.1343C>T