ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829399603
Gene: PPP1R12A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002471.1:p.Asp1016Asn
CA385934370
NM_002480.3:c.3046G>A