ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037427
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92740
ClinVar RCV Id:
RCV000078519
RCV000721174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala104_Val106del
CA220580
NM_001354304.2:c.310_318del