ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830338647
Gene: PYCR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722546.1:p.Ala241Val
CA8845333
NM_153824.3:c.722C>T