ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3075062023
Gene: POP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055844.2:p.Asp511Asn
CA371794352
NM_015029.3:c.1531G>A