ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA148448
Gene: PCNT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95339
ClinVar RCV Id:
RCV000081356
RCV000437760
RCV001142675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006022.3:p.Ala1924Val
CA148447
NM_006031.5:c.5771C>T