ClinGen Allele Registry
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Canonical Allele Identifier:
PA229472
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102618
ClinVar RCV Id:
RCV000088860
RCV001199974
ClinVar Variation Id:
120269
ClinVar RCV Id:
RCV000106350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asn61Lys
CA229471
NM_000277.3:c.183C>G
CA267644
NM_000277.3:c.183C>A