ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105021
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
630
ClinVar RCV Id:
RCV000000662
RCV000088839
RCV001200011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala47Val
CA114370
NM_000277.3:c.140C>T