ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830338653
Gene: PYCR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302647
ClinVar RCV Id:
RCV001756321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722546.1:p.Val244Ala
CA401537064
NM_153824.3:c.731T>C