ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916012840
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_001269210.1:p.Arg139Trp
CA8845466
NM_001282281.2:c.415C>T