ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829380160
Gene: CHMP1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002759.2:p.Ala193Pro
CA397431729
NM_002768.5:c.577G>C