ClinGen Allele Registry
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Canonical Allele Identifier:
PA092008
Gene: PYCR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
28237
ClinVar RCV:
RCV000014085
RCV001582480
RCV002513035
RCV003114191
ClinVar Variation:
13198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269209.1:p.Arg251His
CA122958
NM_001282280.2:c.752G>A