ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827319264
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282265
ClinVar RCV Id:
RCV000512801
RCV000764150
RCV001125517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317452.1:p.Arg112Trp
CA8845466
NM_001330523.2:c.334C>T